Canonical Allele Identifier: CA11421446
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133745840G>A , CM000665.2:g.133745840G>A GRCh38
NC_000003.11:g.133464684G>A , CM000665.1:g.133464684G>A GRCh37
NC_000003.10:g.134947374G>A NCBI36
NG_013080.1:g.4708G>A
NG_013080.2:g.88843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460564.5:n.382-7755G>A (INHCAP)
XM_011513100.1:c.-438-163G>A (TF) XP_011511402.1:n.-438-163G>A
NM_001354703.1:c.-89-2572G>A (TF) NP_001341632.1:n.-89-2572G>A
NM_001354703.2:c.-89-2572G>A (TF) NP_001341632.2:n.-89-2572G>A