Canonical Allele Identifier: CA341290912
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073207
ClinVar RCV Id: RCV001386129
dbSNP Id: rs2101048569
gnomAD v4: 1-94041311-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041311G>C , CM000663.2:g.94041311G>C GRCh38
NC_000001.10:g.94506867G>C , CM000663.1:g.94506867G>C GRCh37
NC_000001.9:g.94279455G>C NCBI36
NG_009073.1:g.84839C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3420C>G MANE Select ENSP00000359245.3:p.Cys1140Trp
ENST00000370225.3:c.3420C>G ENSP00000359245.3:p.Cys1140Trp
ENST00000536513.5:c.-64-1222C>G ENSP00000439707.2:n.-64-1222C>G
NM_000350.2:c.3420C>G NP_000341.2:p.Cys1140Trp
NM_000350.3:c.3420C>G MANE Select NP_000341.2:p.Cys1140Trp