Canonical Allele Identifier: CA418824122
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1079115
ClinVar RCV Id: RCV001394264
dbSNP Id: rs764982444
gnomAD v2: 1-94495004-G-T
gnomAD v4: 1-94029448-G-T
COSMIC: COSM1320834
MyVariant Identifiers: chr1:g.94495004G>T (hg19) chr1:g.94029448G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029448G>T , CM000663.2:g.94029448G>T GRCh38
NC_000001.10:g.94495004G>T , CM000663.1:g.94495004G>T GRCh37
NC_000001.9:g.94267592G>T NCBI36
NG_009073.1:g.96702C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4536C>A MANE Select ENSP00000359245.3:p.Pro1512=
ENST00000370225.3:c.4536C>A ENSP00000359245.3:p.Pro1512=
ENST00000536513.5:c.912C>A ENSP00000439707.2:p.Pro304=
NM_000350.2:c.4536C>A NP_000341.2:p.Pro1512=
NM_000350.3:c.4536C>A MANE Select NP_000341.2:p.Pro1512=
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