Canonical Allele Identifier: CA26853416
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1653366
ClinVar RCV Id: RCV002173999 RCV004531522
dbSNP Id: rs764982444
gnomAD v2: 1-94495004-G-A
gnomAD v3: 1-94029448-G-A
gnomAD v4: 1-94029448-G-A
MyVariant Identifiers: chr1:g.94495004G>A (hg19) chr1:g.94029448G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

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