Canonical Allele Identifier: CA440619007

Gene:

Linked Data

• dbSNP Id: rs1560620150
• gnomAD v2: 4-103422090-A-C
• gnomAD v3: 4-102500933-A-C
• gnomAD v4: 4-102500933-A-C
• MyVariant Identifiers: chr4:g.103422090A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102500933A>C , CM000666.2:g.102500933A>C	GRCh38
NC_000004.11:g.103422090A>C , CM000666.1:g.103422090A>C	GRCh37
NC_000004.10:g.103641122A>C	NCBI36
NG_050628.1:g.4605A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+316T>G	XP_011530769.1:n.643+316T>G
NR_136202.1:n.48+1506T>G