Canonical Allele Identifier: CA555410606
Gene:

Linked Data

dbSNP Id: rs1217165960
gnomAD v2: 4-145522518-C-T
gnomAD v3: 4-144601366-C-T
gnomAD v4: 4-144601366-C-T
MyVariant Identifiers: chr4:g.145522518C>T (hg19) chr4:g.144601366C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601366C>T , CM000666.2:g.144601366C>T GRCh38
NC_000004.11:g.145522518C>T , CM000666.1:g.145522518C>T GRCh37
NC_000004.10:g.145741968C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-185388G>A ENSP00000497507.1:n.328-185388G>A
Search 100 bp 5'
Search 100 bp 3'