Canonical Allele Identifier: CA957698
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2728815
ClinVar RCV Id: RCV003559628
dbSNP Id: rs778022854
ExAC: 1:94496659 G / A
gnomAD v2: 1-94496659-G-A
gnomAD v3: 1-94031103-G-A
gnomAD v4: 1-94031103-G-A
MyVariant Identifiers: chr1:g.94496659G>A (hg19) chr1:g.94031103G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031103G>A , CM000663.2:g.94031103G>A GRCh38
NC_000001.10:g.94496659G>A , CM000663.1:g.94496659G>A GRCh37
NC_000001.9:g.94269247G>A NCBI36
NG_009073.1:g.95047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4146C>T MANE Select ENSP00000359245.3:p.Thr1382=
ENST00000370225.3:c.4146C>T ENSP00000359245.3:p.Thr1382=
ENST00000536513.5:c.522C>T ENSP00000439707.2:p.Thr174=
NM_000350.2:c.4146C>T NP_000341.2:p.Thr1382=
NM_000350.3:c.4146C>T MANE Select NP_000341.2:p.Thr1382=
Search 100 bp 5'
Search 100 bp 3'