Canonical Allele Identifier: CA418821699
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659888480
gnomAD v4: 1-94021299-T-G
MyVariant Identifiers: chr1:g.94486855T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021299T>G , CM000663.2:g.94021299T>G GRCh38
NC_000001.10:g.94486855T>G , CM000663.1:g.94486855T>G GRCh37
NC_000001.9:g.94259443T>G NCBI36
NG_009073.1:g.104851A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4959A>C MANE Select ENSP00000359245.3:p.Gly1653=
ENST00000370225.3:c.4959A>C ENSP00000359245.3:p.Gly1653=
ENST00000460514.1:n.453A>C
ENST00000470771.1:n.69A>C
ENST00000536513.5:c.1335A>C ENSP00000439707.2:p.Gly445=
NM_000350.2:c.4959A>C NP_000341.2:p.Gly1653=
NM_000350.3:c.4959A>C MANE Select NP_000341.2:p.Gly1653=
Search 100 bp 5'
Search 100 bp 3'