Canonical Allele Identifier: CA957611
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373665
ClinVar RCV Id: RCV001877427
dbSNP Id: rs769441167
ExAC: 1:94495135 T / C
gnomAD v2: 1-94495135-T-C
gnomAD v3: 1-94029579-T-C
gnomAD v4: 1-94029579-T-C
MyVariant Identifiers: chr1:g.94495135T>C (hg19) chr1:g.94029579T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029579T>C , CM000663.2:g.94029579T>C GRCh38
NC_000001.10:g.94495135T>C , CM000663.1:g.94495135T>C GRCh37
NC_000001.9:g.94267723T>C NCBI36
NG_009073.1:g.96571A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4405A>G MANE Select ENSP00000359245.3:p.Asn1469Asp
ENST00000370225.3:c.4405A>G ENSP00000359245.3:p.Asn1469Asp
ENST00000536513.5:c.781A>G ENSP00000439707.2:p.Asn261Asp
NM_000350.2:c.4405A>G NP_000341.2:p.Asn1469Asp
NM_000350.3:c.4405A>G MANE Select NP_000341.2:p.Asn1469Asp
Search 100 bp 5'
Search 100 bp 3'