Canonical Allele Identifier: CA957458
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423732
ClinVar RCV Id: RCV001929051
dbSNP Id: rs773251303
ExAC: 1:94487236 G / C
gnomAD v2: 1-94487236-G-C
gnomAD v3: 1-94021680-G-C
gnomAD v4: 1-94021680-G-C
MyVariant Identifiers: chr1:g.94487236G>C (hg19) chr1:g.94021680G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021680G>C , CM000663.2:g.94021680G>C GRCh38
NC_000001.10:g.94487236G>C , CM000663.1:g.94487236G>C GRCh37
NC_000001.9:g.94259824G>C NCBI36
NG_009073.1:g.104470C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4808C>G MANE Select ENSP00000359245.3:p.Pro1603Arg
ENST00000370225.3:c.4808C>G ENSP00000359245.3:p.Pro1603Arg
ENST00000460514.1:n.302C>G
ENST00000536513.5:c.1184C>G ENSP00000439707.2:p.Pro395Arg
NM_000350.2:c.4808C>G NP_000341.2:p.Pro1603Arg
NM_000350.3:c.4808C>G MANE Select NP_000341.2:p.Pro1603Arg
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