Canonical Allele Identifier: CA93117916

Gene:

Linked Data

• dbSNP Id: rs1047888149
• gnomAD v3: 4-12578229-A-C
• gnomAD v4: 4-12578229-A-C
• MyVariant Identifiers: chr4:g.12579853A>C (hg19) ; chr4:g.12578229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578229A>C , CM000666.2:g.12578229A>C	GRCh38
NC_000004.11:g.12579853A>C , CM000666.1:g.12579853A>C	GRCh37
NC_000004.10:g.12188951A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925406.1:n.106+31113T>G
XR_001741374.1:n.254+44426T>G
XR_925406.3:n.140+31113T>G