Canonical Allele Identifier: CA160749894

Gene: CALN1

Linked Data

• dbSNP Id: rs75361033
• gnomAD v2: 7-71252381-G-A
• gnomAD v3: 7-71787396-G-A
• gnomAD v4: 7-71787396-G-A
• MyVariant Identifiers: chr7:g.71252381G>A (hg19) ; chr7:g.71787396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.71787396G>A , CM000669.2:g.71787396G>A	GRCh38
NC_000007.13:g.71252381G>A , CM000669.1:g.71252381G>A	GRCh37
NC_000007.12:g.70890317G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395275.7:c.*379C>T MANE Select	ENSP00000378690.2:n.*379C>T
ENST00000329008.9:c.*379C>T	ENSP00000332498.5:n.*379C>T
ENST00000395275.6:c.*379C>T	ENSP00000378690.2:n.*379C>T
ENST00000395276.6:c.*379C>T	ENSP00000378691.2:n.*379C>T
ENST00000405452.3:c.667C>T	ENSP00000384354.3:n.667C>T
NM_001017440.2:c.*379C>T	NP_001017440.1:n.*379C>T
NM_031468.3:c.*379C>T	NP_113656.2:n.*379C>T
XM_011516593.1:c.*379C>T	XP_011514895.1:n.*379C>T
XM_011516594.1:c.*379C>T	XP_011514896.1:n.*379C>T
XM_011516595.1:c.*379C>T	XP_011514897.1:n.*379C>T
XM_011516596.1:c.*379C>T	XP_011514898.1:n.*379C>T
XM_011516597.1:c.*379C>T	XP_011514899.1:n.*379C>T
XM_011516599.1:c.*379C>T	XP_011514901.1:n.*379C>T
NM_001363460.1:c.*379C>T	NP_001350389.1:n.*379C>T
XM_011516594.3:c.*379C>T	XP_011514896.1:n.*379C>T
XM_011516596.2:c.*379C>T	XP_011514898.1:n.*379C>T
XM_011516597.2:c.*379C>T	XP_011514899.1:n.*379C>T
XM_017012675.1:c.*379C>T	XP_016868164.1:n.*379C>T
XM_017012676.2:c.*379C>T	XP_016868165.1:n.*379C>T
XM_017012677.1:c.*379C>T	XP_016868166.1:n.*379C>T
XM_017012678.1:c.*379C>T	XP_016868167.1:n.*379C>T
XM_017012679.1:c.*379C>T	XP_016868168.1:n.*379C>T
XM_017012680.1:c.*379C>T	XP_016868169.1:n.*379C>T
XM_017012681.1:c.*379C>T	XP_016868170.1:n.*379C>T
XM_017012682.1:c.*379C>T	XP_016868171.1:n.*379C>T
XM_017012683.1:c.*379C>T	XP_016868172.1:n.*379C>T
NM_031468.4:c.*379C>T MANE Select	NP_113656.2:n.*379C>T
NM_001017440.3:c.*379C>T	NP_001017440.1:n.*379C>T