Canonical Allele Identifier: CA11375698

Gene: KALRN

Linked Data

• dbSNP Id: rs11712039
• gnomAD v2: 3-123973586-C-T
• gnomAD v3: 3-124254739-C-T
• gnomAD v4: 3-124254739-C-T
• MyVariant Identifiers: chr3:g.123973586C>T (hg19) ; chr3:g.124254739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124254739C>T , CM000665.2:g.124254739C>T	GRCh38
NC_000003.11:g.123973586C>T , CM000665.1:g.123973586C>T	GRCh37
NC_000003.10:g.125456276C>T	NCBI36
NG_012742.1:g.165029C>T
NG_012742.2:g.165029C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000448253.6:n.346-9759C>T
ENST00000682506.1:c.264-9759C>T MANE Select	ENSP00000508359.1:n.264-9759C>T
ENST00000683571.1:c.264-9759C>T	ENSP00000506888.1:n.264-9759C>T
ENST00000683592.1:n.341-9759C>T
ENST00000684186.1:c.258-9759C>T	ENSP00000507078.1:n.258-9759C>T
ENST00000684276.1:c.258-9759C>T	ENSP00000508068.1:n.258-9759C>T
ENST00000240874.7:c.258-9759C>T	ENSP00000240874.3:n.258-9759C>T
ENST00000354186.8:c.191-9759C>T
ENST00000360013.7:c.258-9759C>T	ENSP00000353109.3:n.258-9759C>T
ENST00000448253.5:c.341-9759C>T
ENST00000460856.5:c.258-9759C>T	ENSP00000418611.1:n.258-9759C>T
NM_001024660.3:c.258-9759C>T	NP_001019831.2:n.258-9759C>T
NM_003947.4:c.258-9759C>T	NP_003938.1:n.258-9759C>T
XM_006713810.2:c.264-9759C>T	XP_006713873.1:n.264-9759C>T
XM_006713811.2:c.264-9759C>T	XP_006713874.1:n.264-9759C>T
XM_006713812.2:c.264-9759C>T	XP_006713875.1:n.264-9759C>T
XM_006713813.2:c.264-9759C>T	XP_006713876.1:n.264-9759C>T
XM_006713814.2:c.264-9759C>T	XP_006713877.1:n.264-9759C>T
XM_006713815.2:c.264-9759C>T	XP_006713878.1:n.264-9759C>T
XM_006713817.2:c.264-9759C>T	XP_006713880.1:n.264-9759C>T
XM_011513279.1:c.264-9759C>T	XP_011511581.1:n.264-9759C>T
XM_011513280.1:c.264-9759C>T	XP_011511582.1:n.264-9759C>T
XM_011513281.1:c.258-9759C>T	XP_011511583.1:n.258-9759C>T
XM_011513282.1:c.264-9759C>T	XP_011511584.1:n.264-9759C>T
XM_011513283.1:c.264-9759C>T	XP_011511585.1:n.264-9759C>T
XM_011513284.1:c.264-9759C>T	XP_011511586.1:n.264-9759C>T
XM_011513285.1:c.264-9759C>T	XP_011511587.1:n.264-9759C>T
XM_011513286.1:c.258-9759C>T	XP_011511588.1:n.258-9759C>T
NM_001024660.4:c.258-9759C>T	NP_001019831.2:n.258-9759C>T
NM_001322988.1:c.258-9759C>T	NP_001309917.1:n.258-9759C>T
NM_001322989.1:c.258-9759C>T	NP_001309918.1:n.258-9759C>T
NM_001322990.1:c.258-9759C>T	NP_001309919.1:n.258-9759C>T
NM_001322991.1:c.258-9759C>T	NP_001309920.1:n.258-9759C>T
NM_001322992.1:c.258-9759C>T	NP_001309921.1:n.258-9759C>T
NM_003947.5:c.258-9759C>T	NP_003938.1:n.258-9759C>T
XM_006713810.3:c.264-9759C>T	XP_006713873.1:n.264-9759C>T
XM_006713811.3:c.264-9759C>T	XP_006713874.1:n.264-9759C>T
XM_006713812.3:c.264-9759C>T	XP_006713875.1:n.264-9759C>T
XM_006713813.3:c.264-9759C>T	XP_006713876.1:n.264-9759C>T
XM_006713814.3:c.264-9759C>T	XP_006713877.1:n.264-9759C>T
XM_006713815.3:c.264-9759C>T	XP_006713878.1:n.264-9759C>T
XM_011513279.2:c.264-9759C>T	XP_011511581.1:n.264-9759C>T
XM_011513280.2:c.264-9759C>T	XP_011511582.1:n.264-9759C>T
XM_011513281.3:c.258-9759C>T	XP_011511583.1:n.258-9759C>T
XM_011513283.2:c.264-9759C>T	XP_011511585.1:n.264-9759C>T
XM_011513285.2:c.264-9759C>T	XP_011511587.1:n.264-9759C>T
XM_017007429.1:c.264-9759C>T	XP_016862918.1:n.264-9759C>T
XM_017007430.1:c.264-9759C>T	XP_016862919.1:n.264-9759C>T
XM_017007431.1:c.264-9759C>T	XP_016862920.1:n.264-9759C>T
XM_017007432.1:c.264-9759C>T	XP_016862921.1:n.264-9759C>T
XM_017007433.2:c.264-9759C>T	XP_016862922.1:n.264-9759C>T
XM_017007434.2:c.264-9759C>T	XP_016862923.1:n.264-9759C>T
XM_017007435.2:c.264-9759C>T	XP_016862924.1:n.264-9759C>T
XM_024453811.1:c.264-9759C>T	XP_024309579.1:n.264-9759C>T
XR_001740356.1:n.664-9759C>T
XR_001740357.1:n.664-9759C>T
XR_001740358.1:n.664-9759C>T
NM_001322989.2:c.258-9759C>T	NP_001309918.1:n.258-9759C>T
NM_001322990.2:c.258-9759C>T	NP_001309919.1:n.258-9759C>T
NM_001322991.2:c.258-9759C>T	NP_001309920.1:n.258-9759C>T
NM_001322992.2:c.258-9759C>T	NP_001309921.1:n.258-9759C>T
NM_003947.6:c.258-9759C>T	NP_003938.1:n.258-9759C>T
NM_001024660.5:c.258-9759C>T	NP_001019831.2:n.258-9759C>T
NM_001322988.2:c.258-9759C>T	NP_001309917.1:n.258-9759C>T
NM_001388417.1:c.264-9759C>T	NP_001375346.1:n.264-9759C>T
NM_001388418.1:c.264-9759C>T	NP_001375347.1:n.264-9759C>T
NM_001388419.1:c.264-9759C>T MANE Select	NP_001375348.1:n.264-9759C>T