Canonical Allele Identifier: CA357199261

Gene: GC

Linked Data

• dbSNP Id: rs1467603249
• gnomAD v2: 4-72607572-T-A
• gnomAD v4: 4-71741855-T-A
• MyVariant Identifiers: chr4:g.72607572T>A (hg19) ; chr4:g.71741855T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71741855T>A , CM000666.2:g.71741855T>A	GRCh38
NC_000004.11:g.72607572T>A , CM000666.1:g.72607572T>A	GRCh37
NC_000004.10:g.72826436T>A	NCBI36
NG_012837.2:g.68666A>T
NG_012837.3:g.68666A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*41A>T MANE Select	ENSP00000273951.8:n.*41A>T
ENST00000273951.12:c.*41A>T	ENSP00000273951.8:n.*41A>T
ENST00000503364.5:n.139A>T
ENST00000503472.5:n.1350A>T
ENST00000504199.5:c.*41A>T	ENSP00000421725.1:n.*41A>T
ENST00000509740.5:c.*289A>T	ENSP00000422664.1:n.*289A>T
ENST00000513476.5:c.1411A>T	ENSP00000426683.1:p.Thr471Ser
NM_000583.3:c.*41A>T	NP_000574.2:n.*41A>T
NM_001204306.1:c.*41A>T	NP_001191235.1:n.*41A>T
NM_001204307.1:c.*41A>T	NP_001191236.1:n.*41A>T
XM_006714177.2:c.*55A>T	XP_006714240.1:n.*55A>T
XM_006714177.3:c.*55A>T	XP_006714240.1:n.*55A>T
NM_000583.4:c.*41A>T MANE Select	NP_000574.2:n.*41A>T