Canonical Allele Identifier: CA92831140

Gene:

Linked Data

• dbSNP Id: rs1054685150
• gnomAD v2: 4-11503469-A-C
• gnomAD v3: 4-11501845-A-C
• gnomAD v4: 4-11501845-A-C
• MyVariant Identifiers: chr4:g.11503469A>C (hg19) ; chr4:g.11501845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.11501845A>C , CM000666.2:g.11501845A>C	GRCh38
NC_000004.11:g.11503469A>C , CM000666.1:g.11503469A>C	GRCh37
NC_000004.10:g.11112567A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741361.1:n.950+18999A>C