Canonical Allele Identifier: CA958413
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1469908
ClinVar RCV Id: RCV001973125
dbSNP Id: rs749053239
ExAC: 1:94528230 T / C
gnomAD v2: 1-94528230-T-C
gnomAD v4: 1-94062674-T-C
MyVariant Identifiers: chr1:g.94528230T>C (hg19) chr1:g.94062674T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062674T>C , CM000663.2:g.94062674T>C GRCh38
NC_000001.10:g.94528230T>C , CM000663.1:g.94528230T>C GRCh37
NC_000001.9:g.94300818T>C NCBI36
NG_009073.1:g.63476A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1840A>G MANE Select ENSP00000359245.3:p.Met614Val
ENST00000649773.1:c.1840A>G ENSP00000496882.1:p.Met614Val
ENST00000370225.3:c.1840A>G ENSP00000359245.3:p.Met614Val
ENST00000536513.5:c.-65+500A>G ENSP00000439707.2:n.-65+500A>G
NM_000350.2:c.1840A>G NP_000341.2:p.Met614Val
NM_000350.3:c.1840A>G MANE Select NP_000341.2:p.Met614Val
Search 100 bp 5'
Search 100 bp 3'