Canonical Allele Identifier: CA2614496137
Gene:

Linked Data

gnomAD v4: 11-66510561-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510561C>T , CM000673.2:g.66510561C>T GRCh38
NC_000011.9:g.66278032C>T , CM000673.1:g.66278032C>T GRCh37
NC_000011.8:g.66034608C>T NCBI36
NG_009093.1:g.4914C>T
NG_032068.1:g.35153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000419755.3:c.159-452C>T ENSP00000398526.3:n.159-452C>T
Search 100 bp 5'
Search 100 bp 3'