Canonical Allele Identifier: CA11814118
Gene:

Linked Data

dbSNP Id: rs112435149
gnomAD v2: 4-103421148-C-T
gnomAD v3: 4-102499991-C-T
gnomAD v4: 4-102499991-C-T
MyVariant Identifiers: chr4:g.103421148C>T (hg19) chr4:g.102499991C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499991C>T , CM000666.2:g.102499991C>T GRCh38
NC_000004.11:g.103421148C>T , CM000666.1:g.103421148C>T GRCh37
NC_000004.10:g.103640180C>T NCBI36
NG_050628.1:g.3663C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1258G>A XP_011530769.1:n.643+1258G>A
NR_136202.1:n.48+2448G>A
Search 100 bp 5'
Search 100 bp 3'