Canonical Allele Identifier: CA15350804

Gene:

Linked Data

• dbSNP Id: rs13141641
• gnomAD v2: 4-145506456-T-C
• gnomAD v3: 4-144585304-T-C
• gnomAD v4: 4-144585304-T-C
• MyVariant Identifiers: chr4:g.145506456T>C (hg19) ; chr4:g.144585304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144585304T>C , CM000666.2:g.144585304T>C	GRCh38
NC_000004.11:g.145506456T>C , CM000666.1:g.145506456T>C	GRCh37
NC_000004.10:g.145725906T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000649263.1:c.328-169326A>G	ENSP00000497507.1:n.328-169326A>G