Canonical Allele Identifier: CA418821789
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1160040
ClinVar RCV Id: RCV001503979
dbSNP Id: rs1265079301
gnomAD v3: 1-94021646-G-A
gnomAD v4: 1-94021646-G-A
MyVariant Identifiers: chr1:g.94487202G>A (hg19) chr1:g.94021646G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021646G>A , CM000663.2:g.94021646G>A GRCh38
NC_000001.10:g.94487202G>A , CM000663.1:g.94487202G>A GRCh37
NC_000001.9:g.94259790G>A NCBI36
NG_009073.1:g.104504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4842C>T MANE Select ENSP00000359245.3:p.Asn1614=
ENST00000370225.3:c.4842C>T ENSP00000359245.3:p.Asn1614=
ENST00000460514.1:n.336C>T
ENST00000536513.5:c.1218C>T ENSP00000439707.2:p.Asn406=
NM_000350.2:c.4842C>T NP_000341.2:p.Asn1614=
NM_000350.3:c.4842C>T MANE Select NP_000341.2:p.Asn1614=
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