Canonical Allele Identifier: CA957685
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs773383462
ExAC: 1:94496593 G / A
gnomAD v2: 1-94496593-G-A
gnomAD v4: 1-94031037-G-A
MyVariant Identifiers: chr1:g.94496593G>A (hg19) chr1:g.94031037G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031037G>A , CM000663.2:g.94031037G>A GRCh38
NC_000001.10:g.94496593G>A , CM000663.1:g.94496593G>A GRCh37
NC_000001.9:g.94269181G>A NCBI36
NG_009073.1:g.95113C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4212C>T MANE Select ENSP00000359245.3:p.Thr1404=
ENST00000370225.3:c.4212C>T ENSP00000359245.3:p.Thr1404=
ENST00000536513.5:c.588C>T ENSP00000439707.2:p.Thr196=
NM_000350.2:c.4212C>T NP_000341.2:p.Thr1404=
NM_000350.3:c.4212C>T MANE Select NP_000341.2:p.Thr1404=
Search 100 bp 5'
Search 100 bp 3'