Canonical Allele Identifier: CA440619575
Gene:

Linked Data

dbSNP Id: rs1578688832
gnomAD v3: 4-102500989-T-C
gnomAD v4: 4-102500989-T-C
MyVariant Identifiers: chr4:g.103422146T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102500989T>C , CM000666.2:g.102500989T>C GRCh38
NC_000004.11:g.103422146T>C , CM000666.1:g.103422146T>C GRCh37
NC_000004.10:g.103641178T>C NCBI36
NG_050628.1:g.4661T>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+260A>G XP_011530769.1:n.643+260A>G
NR_136202.1:n.48+1450A>G
Search 100 bp 5'
Search 100 bp 3'