Canonical Allele Identifier: CA440620000

Gene:

Linked Data

• dbSNP Id: rs1389462720
• gnomAD v2: 4-103422264-C-G
• gnomAD v3: 4-102501107-C-G
• gnomAD v4: 4-102501107-C-G
• MyVariant Identifiers: chr4:g.103422264C>G (hg19) ; chr4:g.102501107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501107C>G , CM000666.2:g.102501107C>G	GRCh38
NC_000004.11:g.103422264C>G , CM000666.1:g.103422264C>G	GRCh37
NC_000004.10:g.103641296C>G	NCBI36
NG_050628.1:g.4779C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+142G>C	XP_011530769.1:n.643+142G>C
NR_136202.1:n.48+1332G>C