Canonical Allele Identifier: CA341292345
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042881G>C , CM000663.2:g.94042881G>C GRCh38
NC_000001.10:g.94508437G>C , CM000663.1:g.94508437G>C GRCh37
NC_000001.9:g.94281025G>C NCBI36
NG_009073.1:g.83269C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3208C>G MANE Select ENSP00000359245.3:p.Leu1070Val
ENST00000370225.3:c.3208C>G ENSP00000359245.3:p.Leu1070Val
ENST00000536513.5:c.-64-2792C>G ENSP00000439707.2:n.-64-2792C>G
NM_000350.2:c.3208C>G NP_000341.2:p.Leu1070Val
NM_000350.3:c.3208C>G MANE Select NP_000341.2:p.Leu1070Val