Canonical Allele Identifier: CA1064018587

Gene: GC

Linked Data

• dbSNP Id: rs1741449523
• gnomAD v3: 4-71748554-A-G
• gnomAD v4: 4-71748554-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.71748554A>G , CM000666.2:g.71748554A>G	GRCh38
NC_000004.11:g.72614271A>G , CM000666.1:g.72614271A>G	GRCh37
NC_000004.10:g.72833135A>G	NCBI36
NG_012837.2:g.61967T>C
NG_012837.3:g.61967T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273951.13:c.1396-2349T>C MANE Select	ENSP00000273951.8:n.1396-2349T>C
ENST00000273951.12:c.1396-2349T>C	ENSP00000273951.8:n.1396-2349T>C
ENST00000503364.5:n.69-2349T>C
ENST00000503472.5:n.1280-2349T>C
ENST00000504199.5:c.1453-2349T>C	ENSP00000421725.1:n.1453-2349T>C
ENST00000509740.5:c.*219-2349T>C	ENSP00000422664.1:n.*219-2349T>C
ENST00000513476.5:c.1395+3964T>C	ENSP00000426683.1:n.1395+3964T>C
NM_000583.3:c.1396-2349T>C	NP_000574.2:n.1396-2349T>C
NM_001204306.1:c.1396-2349T>C	NP_001191235.1:n.1396-2349T>C
NM_001204307.1:c.1453-2349T>C	NP_001191236.1:n.1453-2349T>C
XM_006714177.2:c.1263-2349T>C	XP_006714240.1:n.1263-2349T>C
XM_006714177.3:c.1263-2349T>C	XP_006714240.1:n.1263-2349T>C
NM_000583.4:c.1396-2349T>C MANE Select	NP_000574.2:n.1396-2349T>C