Canonical Allele Identifier: CA2667759901

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133691711C>A , CM000665.2:g.133691711C>A GRCh38
NC_000003.11:g.133410555C>A , CM000665.1:g.133410555C>A GRCh37
NC_000003.10:g.134893245C>A NCBI36
NG_013080.2:g.34714C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460564.5:n.209+3347C>A (INHCAP)
ENST00000475455.1:n.174-12C>A (INHCAP)
ENST00000490470.5:n.209+3347C>A (INHCAP)
ENST00000497521.5:n.208+3347C>A (INHCAP)
XM_011513100.1:c.-1289+3347C>A (TF) XP_011511402.1:n.-1289+3347C>A
NM_001354703.1:c.-940+3347C>A (TF) NP_001341632.1:n.-940+3347C>A
NM_001354703.2:c.-940+3347C>A (TF) NP_001341632.2:n.-940+3347C>A