Canonical Allele Identifier: CA16174491

Gene:

Linked Data

• dbSNP Id: rs7671189
• gnomAD v2: 4-11674661-T-C
• gnomAD v3: 4-11673037-T-C
• gnomAD v4: 4-11673037-T-C
• MyVariant Identifiers: chr4:g.11674661T>C (hg19) ; chr4:g.11673037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.11673037T>C , CM000666.2:g.11673037T>C	GRCh38
NC_000004.11:g.11674661T>C , CM000666.1:g.11674661T>C	GRCh37
NC_000004.10:g.11283759T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741361.1:n.1027-90422T>C