Canonical Allele Identifier: CA1069061818
Gene:

Linked Data

gnomAD v3: 4-144601414-C-T
gnomAD v4: 4-144601414-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144601414C>T , CM000666.2:g.144601414C>T GRCh38
NC_000004.11:g.145522566C>T , CM000666.1:g.145522566C>T GRCh37
NC_000004.10:g.145742016C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000649263.1:c.328-185436G>A ENSP00000497507.1:n.328-185436G>A
Search 100 bp 5'
Search 100 bp 3'