Canonical Allele Identifier: CA1000457825
Gene:

Linked Data

dbSNP Id: rs1639363598
gnomAD v3: 1-34523580-G-C
gnomAD v4: 1-34523580-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523580G>C , CM000663.2:g.34523580G>C GRCh38
NC_000001.10:g.34989181G>C , CM000663.1:g.34989181G>C GRCh37
NC_000001.9:g.34761768G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_947171.1:n.1073+23999C>G
XR_001737964.1:n.991+23999C>G
Search 100 bp 5'
Search 100 bp 3'