Canonical Allele Identifier: CA99062583

Gene: GC

Linked Data

• dbSNP Id: rs1020339135
• gnomAD v3: 4-71751318-C-A
• gnomAD v4: 4-71751318-C-A
• MyVariant Identifiers: chr4:g.72617035C>A (hg19) ; chr4:g.71751318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71751318C>A , CM000666.2:g.71751318C>A	GRCh38
NC_000004.11:g.72617035C>A , CM000666.1:g.72617035C>A	GRCh37
NC_000004.10:g.72835899C>A	NCBI36
NG_012837.2:g.59203G>T
NG_012837.3:g.59203G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.1395+1200G>T MANE Select	ENSP00000273951.8:n.1395+1200G>T
ENST00000273951.12:c.1395+1200G>T	ENSP00000273951.8:n.1395+1200G>T
ENST00000503364.5:n.68+3093G>T
ENST00000503472.5:n.1279+1200G>T
ENST00000504199.5:c.1452+1200G>T	ENSP00000421725.1:n.1452+1200G>T
ENST00000509740.5:c.*218+1200G>T	ENSP00000422664.1:n.*218+1200G>T
ENST00000513476.5:c.1395+1200G>T	ENSP00000426683.1:n.1395+1200G>T
NM_000583.3:c.1395+1200G>T	NP_000574.2:n.1395+1200G>T
NM_001204306.1:c.1395+1200G>T	NP_001191235.1:n.1395+1200G>T
NM_001204307.1:c.1452+1200G>T	NP_001191236.1:n.1452+1200G>T
XM_006714177.2:c.1262+3093G>T	XP_006714240.1:n.1262+3093G>T
XM_006714177.3:c.1262+3093G>T	XP_006714240.1:n.1262+3093G>T
NM_000583.4:c.1395+1200G>T MANE Select	NP_000574.2:n.1395+1200G>T