Canonical Allele Identifier: CA15228340
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133744428G>A , CM000665.2:g.133744428G>A GRCh38
NC_000003.11:g.133463272G>A , CM000665.1:g.133463272G>A GRCh37
NC_000003.10:g.134945962G>A NCBI36
NG_013080.1:g.3296G>A
NG_013080.2:g.87431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460564.5:n.382-9167G>A (INHCAP)
XM_011513100.1:c.-438-1575G>A (TF) XP_011511402.1:n.-438-1575G>A
NM_001354703.1:c.-89-3984G>A (TF) NP_001341632.1:n.-89-3984G>A
NM_001354703.2:c.-89-3984G>A (TF) NP_001341632.2:n.-89-3984G>A