Canonical Allele Identifier: CA341283036
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1335975904
gnomAD v2: 1-94486868-G-C
gnomAD v4: 1-94021312-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021312G>C , CM000663.2:g.94021312G>C GRCh38
NC_000001.10:g.94486868G>C , CM000663.1:g.94486868G>C GRCh37
NC_000001.9:g.94259456G>C NCBI36
NG_009073.1:g.104838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4946C>G MANE Select ENSP00000359245.3:p.Pro1649Arg
ENST00000370225.3:c.4946C>G ENSP00000359245.3:p.Pro1649Arg
ENST00000460514.1:n.440C>G
ENST00000470771.1:n.56C>G
ENST00000536513.5:c.1322C>G ENSP00000439707.2:p.Pro441Arg
NM_000350.2:c.4946C>G NP_000341.2:p.Pro1649Arg
NM_000350.3:c.4946C>G MANE Select NP_000341.2:p.Pro1649Arg