Canonical Allele Identifier: CA16174881

Gene:

Linked Data

• dbSNP Id: rs2056116
• gnomAD v2: 4-13009987-A-G
• gnomAD v3: 4-13008363-A-G
• gnomAD v4: 4-13008363-A-G
• MyVariant Identifiers: chr4:g.13009987A>G (hg19) ; chr4:g.13008363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13008363A>G , CM000666.2:g.13008363A>G	GRCh38
NC_000004.11:g.13009987A>G , CM000666.1:g.13009987A>G	GRCh37
NC_000004.10:g.12619085A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925410.1:n.457-11837T>C