Canonical Allele Identifier: CA552289006

Gene: GC

Linked Data

• dbSNP Id: rs1285878240
• gnomAD v2: 4-72608286-A-T
• gnomAD v3: 4-71742569-A-T
• gnomAD v4: 4-71742569-A-T
• MyVariant Identifiers: chr4:g.72608286A>T (hg19) ; chr4:g.71742569A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71742569A>T , CM000666.2:g.71742569A>T	GRCh38
NC_000004.11:g.72608286A>T , CM000666.1:g.72608286A>T	GRCh37
NC_000004.10:g.72827150A>T	NCBI36
NG_012837.2:g.67952T>A
NG_012837.3:g.67952T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.*26-699T>A MANE Select	ENSP00000273951.8:n.*26-699T>A
ENST00000273951.12:c.*26-699T>A	ENSP00000273951.8:n.*26-699T>A
ENST00000503364.5:n.124-699T>A
ENST00000503472.5:n.1335-699T>A
ENST00000504199.5:c.*26-699T>A	ENSP00000421725.1:n.*26-699T>A
ENST00000509740.5:c.*274-699T>A	ENSP00000422664.1:n.*274-699T>A
ENST00000513476.5:c.1396-699T>A	ENSP00000426683.1:n.1396-699T>A
NM_000583.3:c.*26-699T>A	NP_000574.2:n.*26-699T>A
NM_001204306.1:c.*26-699T>A	NP_001191235.1:n.*26-699T>A
NM_001204307.1:c.*26-699T>A	NP_001191236.1:n.*26-699T>A
XM_006714177.2:c.*40-699T>A	XP_006714240.1:n.*40-699T>A
XM_006714177.3:c.*40-699T>A	XP_006714240.1:n.*40-699T>A
NM_000583.4:c.*26-699T>A MANE Select	NP_000574.2:n.*26-699T>A