Canonical Allele Identifier: CA103120462
Gene:

Linked Data

dbSNP Id: rs36226652
gnomAD v2: 4-103422348-G-A
gnomAD v3: 4-102501191-G-A
gnomAD v4: 4-102501191-G-A
MyVariant Identifiers: chr4:g.103422348G>A (hg19) chr4:g.102501191G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102501191G>A , CM000666.2:g.102501191G>A GRCh38
NC_000004.11:g.103422348G>A , CM000666.1:g.103422348G>A GRCh37
NC_000004.10:g.103641380G>A NCBI36
NG_050628.1:g.4863G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+58C>T XP_011530769.1:n.643+58C>T
NR_136202.1:n.48+1248C>T
Search 100 bp 5'
Search 100 bp 3'