Canonical Allele Identifier: CA341277656
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056603C>G , CM000663.2:g.94056603C>G GRCh38
NC_000001.10:g.94522159C>G , CM000663.1:g.94522159C>G GRCh37
NC_000001.9:g.94294747C>G NCBI36
NG_009073.1:g.69547G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2380G>C MANE Select ENSP00000359245.3:p.Val794Leu
ENST00000649773.1:c.2161-1288G>C ENSP00000496882.1:n.2161-1288G>C
ENST00000370225.3:c.2380G>C ENSP00000359245.3:p.Val794Leu
ENST00000536513.5:c.-65+6571G>C ENSP00000439707.2:n.-65+6571G>C
NM_000350.2:c.2380G>C NP_000341.2:p.Val794Leu
NM_000350.3:c.2380G>C MANE Select NP_000341.2:p.Val794Leu