Canonical Allele Identifier: CA2955563

Gene: GC

Linked Data

• dbSNP Id: rs181265363
• ExAC: 4:72622646 G / T
• gnomAD v2: 4-72622646-G-T
• gnomAD v3: 4-71756929-G-T
• gnomAD v4: 4-71756929-G-T
• MyVariant Identifiers: chr4:g.72622646G>T (hg19) ; chr4:g.71756929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71756929G>T , CM000666.2:g.71756929G>T	GRCh38
NC_000004.11:g.72622646G>T , CM000666.1:g.72622646G>T	GRCh37
NC_000004.10:g.72841510G>T	NCBI36
NG_012837.2:g.53592C>A
NG_012837.3:g.53592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273951.13:c.832-15C>A MANE Select	ENSP00000273951.8:n.832-15C>A
ENST00000273951.12:c.832-15C>A	ENSP00000273951.8:n.832-15C>A
ENST00000503472.5:n.716-15C>A
ENST00000504199.5:c.889-15C>A	ENSP00000421725.1:n.889-15C>A
ENST00000509740.5:c.832-15C>A	ENSP00000422664.1:n.832-15C>A
ENST00000513476.5:c.832-15C>A	ENSP00000426683.1:n.832-15C>A
NM_000583.3:c.832-15C>A	NP_000574.2:n.832-15C>A
NM_001204306.1:c.832-15C>A	NP_001191235.1:n.832-15C>A
NM_001204307.1:c.889-15C>A	NP_001191236.1:n.889-15C>A
XM_006714177.2:c.832-15C>A	XP_006714240.1:n.832-15C>A
XM_006714177.3:c.832-15C>A	XP_006714240.1:n.832-15C>A
NM_000583.4:c.832-15C>A MANE Select	NP_000574.2:n.832-15C>A