Canonical Allele Identifier: CA957488
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866944
ClinVar RCV Id: RCV001075350 RCV001340257
dbSNP Id: rs751844313
ExAC: 1:94487402 C / A
gnomAD v2: 1-94487402-C-A
gnomAD v4: 1-94021846-C-A
MyVariant Identifiers: chr1:g.94487402C>A (hg19) chr1:g.94021846C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021846C>A , CM000663.2:g.94021846C>A GRCh38
NC_000001.10:g.94487402C>A , CM000663.1:g.94487402C>A GRCh37
NC_000001.9:g.94259990C>A NCBI36
NG_009073.1:g.104304G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4773G>T MANE Select ENSP00000359245.3:p.Gly1591=
ENST00000370225.3:c.4773G>T ENSP00000359245.3:p.Gly1591=
ENST00000460514.1:n.267G>T
ENST00000536513.5:c.1149G>T ENSP00000439707.2:p.Gly383=
NM_000350.2:c.4773G>T NP_000341.2:p.Gly1591=
NM_000350.3:c.4773G>T MANE Select NP_000341.2:p.Gly1591=
Search 100 bp 5'
Search 100 bp 3'