Canonical Allele Identifier: CA552292683

Gene: GC

Linked Data

• dbSNP Id: rs1196453314
• gnomAD v2: 4-72649782-C-A
• gnomAD v4: 4-71784065-C-A
• MyVariant Identifiers: chr4:g.72649782C>A (hg19) ; chr4:g.71784065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71784065C>A , CM000666.2:g.71784065C>A	GRCh38
NC_000004.11:g.72649782C>A , CM000666.1:g.72649782C>A	GRCh37
NC_000004.10:g.72868646C>A	NCBI36
NG_012837.2:g.26456G>T
NG_012837.3:g.26456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.-47G>T MANE Select	ENSP00000273951.8:n.-47G>T
ENST00000273951.12:c.-47G>T	ENSP00000273951.8:n.-47G>T
ENST00000504199.5:c.22-11G>T	ENSP00000421725.1:n.22-11G>T
ENST00000506245.1:c.-36-11G>T	ENSP00000426718.1:n.-36-11G>T
ENST00000509740.5:c.-47G>T	ENSP00000422664.1:n.-47G>T
NM_000583.3:c.-47G>T	NP_000574.2:n.-47G>T
NM_001204306.1:c.-36-11G>T	NP_001191235.1:n.-36-11G>T
NM_001204307.1:c.22-11G>T	NP_001191236.1:n.22-11G>T
XM_006714177.2:c.-47G>T	XP_006714240.1:n.-47G>T
XM_006714177.3:c.-47G>T	XP_006714240.1:n.-47G>T
NM_000583.4:c.-47G>T MANE Select	NP_000574.2:n.-47G>T