Canonical Allele Identifier: CA31701739

Gene:

Linked Data

• dbSNP Id: rs555914818
• gnomAD v3: 1-168649236-C-G
• gnomAD v4: 1-168649236-C-G
• MyVariant Identifiers: chr1:g.168618474C>G (hg19) ; chr1:g.168649236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649236C>G , CM000663.2:g.168649236C>G	GRCh38
NC_000001.10:g.168618474C>G , CM000663.1:g.168618474C>G	GRCh37
NC_000001.9:g.166885098C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-7961G>C
XR_922259.2:n.332-7961G>C