Canonical Allele Identifier: CA96826381
Gene:

Linked Data

dbSNP Id: rs182648386
gnomAD v3: 4-54228561-C-T
gnomAD v4: 4-54228561-C-T
MyVariant Identifiers: chr4:g.55094728C>T (hg19) chr4:g.54228561C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228561C>T , CM000666.2:g.54228561C>T GRCh38
NC_000004.11:g.55094728C>T , CM000666.1:g.55094728C>T GRCh37
NC_000004.10:g.54789485C>T NCBI36
NG_009250.1:g.4465C>T , LRG_309:g.4465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46364C>T ENSP00000423325.1:n.1018-46364C>T
Search 100 bp 5'
Search 100 bp 3'