Canonical Allele Identifier: CA2955369

Gene: GC

Linked Data

• dbSNP Id: rs773288169
• ExAC: 4:72607586 G / T
• gnomAD v2: 4-72607586-G-T
• gnomAD v4: 4-71741869-G-T
• MyVariant Identifiers: chr4:g.72607586G>T (hg19) ; chr4:g.71741869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71741869G>T , CM000666.2:g.71741869G>T	GRCh38
NC_000004.11:g.72607586G>T , CM000666.1:g.72607586G>T	GRCh37
NC_000004.10:g.72826450G>T	NCBI36
NG_012837.2:g.68652C>A
NG_012837.3:g.68652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.*27C>A MANE Select	ENSP00000273951.8:n.*27C>A
ENST00000273951.12:c.*27C>A	ENSP00000273951.8:n.*27C>A
ENST00000503364.5:n.125C>A
ENST00000503472.5:n.1336C>A
ENST00000504199.5:c.*27C>A	ENSP00000421725.1:n.*27C>A
ENST00000509740.5:c.*275C>A	ENSP00000422664.1:n.*275C>A
ENST00000513476.5:c.1397C>A	ENSP00000426683.1:p.Thr466Asn
NM_000583.3:c.*27C>A	NP_000574.2:n.*27C>A
NM_001204306.1:c.*27C>A	NP_001191235.1:n.*27C>A
NM_001204307.1:c.*27C>A	NP_001191236.1:n.*27C>A
XM_006714177.2:c.*41C>A	XP_006714240.1:n.*41C>A
XM_006714177.3:c.*41C>A	XP_006714240.1:n.*41C>A
NM_000583.4:c.*27C>A MANE Select	NP_000574.2:n.*27C>A