Canonical Allele Identifier: CA798103600

Gene: GC

Linked Data

• dbSNP Id: rs1326101240
• gnomAD v3: 4-71745912-A-G
• gnomAD v4: 4-71745912-A-G
• MyVariant Identifiers: chr4:g.72611629A>G (hg19) ; chr4:g.71745912A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71745912A>G , CM000666.2:g.71745912A>G	GRCh38
NC_000004.11:g.72611629A>G , CM000666.1:g.72611629A>G	GRCh37
NC_000004.10:g.72830493A>G	NCBI36
NG_012837.2:g.64609T>C
NG_012837.3:g.64609T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.*25+239T>C MANE Select	ENSP00000273951.8:n.*25+239T>C
ENST00000273951.12:c.*25+239T>C	ENSP00000273951.8:n.*25+239T>C
ENST00000503364.5:n.123+239T>C
ENST00000503472.5:n.1334+239T>C
ENST00000504199.5:c.*25+239T>C	ENSP00000421725.1:n.*25+239T>C
ENST00000509740.5:c.*273+239T>C	ENSP00000422664.1:n.*273+239T>C
ENST00000513476.5:c.1396-4042T>C	ENSP00000426683.1:n.1396-4042T>C
NM_000583.3:c.*25+239T>C	NP_000574.2:n.*25+239T>C
NM_001204306.1:c.*25+239T>C	NP_001191235.1:n.*25+239T>C
NM_001204307.1:c.*25+239T>C	NP_001191236.1:n.*25+239T>C
XM_006714177.2:c.*39+239T>C	XP_006714240.1:n.*39+239T>C
XM_006714177.3:c.*39+239T>C	XP_006714240.1:n.*39+239T>C
NM_000583.4:c.*25+239T>C MANE Select	NP_000574.2:n.*25+239T>C