Canonical Allele Identifier: CA2567043

Gene: IQCB1

Linked Data

• ClinVar Variation Id: 342770
• ClinVar RCV Id: RCV000353462 ; RCV002057823
• dbSNP Id: rs373762948
• ExAC: 3:121489378 G / A
• gnomAD v2: 3-121489378-G-A
• gnomAD v3: 3-121770531-G-A
• gnomAD v4: 3-121770531-G-A
• MyVariant Identifiers: chr3:g.121489378G>A (hg19) ; chr3:g.121770531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121770531G>A , CM000665.2:g.121770531G>A	GRCh38
NC_000003.11:g.121489378G>A , CM000665.1:g.121489378G>A	GRCh37
NC_000003.10:g.122972068G>A	NCBI36
NG_015887.1:g.69549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310864.11:c.1611C>T MANE Select	ENSP00000311505.6:p.Leu537=
ENST00000310864.10:c.1611C>T	ENSP00000311505.6:p.Leu537=
ENST00000349820.10:c.1212C>T	ENSP00000323756.7:p.Leu404=
ENST00000393650.7:c.*589C>T	ENSP00000377261.3:n.*589C>T
NM_001023570.2:c.1611C>T	NP_001018864.2:p.Leu537=
NM_001023571.2:c.1212C>T	NP_001018865.2:p.Leu404=
XM_005247911.2:c.*29C>T	XP_005247968.1:n.*29C>T
XM_005247912.1:c.1059C>T	XP_005247969.1:p.Leu353=
XM_011513335.1:c.1059C>T	XP_011511637.1:p.Leu353=
XR_924221.1:n.1628C>T
NM_001023570.3:c.1611C>T	NP_001018864.2:p.Leu537=
NM_001023571.3:c.1212C>T	NP_001018865.2:p.Leu404=
NM_001319107.1:c.1611C>T	NP_001306036.1:p.Leu537=
NR_134968.1:n.1715C>T
XM_005247911.4:c.*29C>T	XP_005247968.1:n.*29C>T
XM_005247912.3:c.1059C>T	XP_005247969.1:p.Leu353=
XM_011513335.3:c.1059C>T	XP_011511637.1:p.Leu353=
XM_017007537.2:c.1059C>T	XP_016863026.1:p.Leu353=
XM_017007539.2:c.*29C>T	XP_016863028.1:n.*29C>T
XM_024453833.1:c.1059C>T	XP_024309601.1:p.Leu353=
XM_024453834.1:c.1059C>T	XP_024309602.1:p.Leu353=
XR_001740376.2:n.1590C>T
XR_001740377.2:n.1433C>T
XR_001740378.2:n.1629C>T
XR_001740379.2:n.1480C>T
XR_001740380.2:n.1472C>T
XR_001740381.2:n.1323C>T
NM_001023570.4:c.1611C>T MANE Select	NP_001018864.2:p.Leu537=
NM_001023571.4:c.1212C>T	NP_001018865.2:p.Leu404=
NM_001319107.2:c.1611C>T	NP_001306036.1:p.Leu537=
NR_134968.2:n.1696C>T