Canonical Allele Identifier: CA16603707
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 377403
dbSNP Id: rs760790294
gnomAD v4: 1-94062595-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062595G>A , CM000663.2:g.94062595G>A GRCh38
NC_000001.10:g.94528151G>A , CM000663.1:g.94528151G>A GRCh37
NC_000001.9:g.94300739G>A NCBI36
NG_009073.1:g.63555C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1919C>T MANE Select ENSP00000359245.3:p.Pro640Leu
ENST00000649773.1:c.1919C>T ENSP00000496882.1:p.Pro640Leu
ENST00000370225.3:c.1919C>T ENSP00000359245.3:p.Pro640Leu
ENST00000536513.5:c.-65+579C>T ENSP00000439707.2:n.-65+579C>T
NM_000350.2:c.1919C>T NP_000341.2:p.Pro640Leu
NM_000350.3:c.1919C>T MANE Select NP_000341.2:p.Pro640Leu