Canonical Allele Identifier: CA418821708
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659889244
MyVariant Identifiers: chr1:g.94486870G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021314G>A , CM000663.2:g.94021314G>A GRCh38
NC_000001.10:g.94486870G>A , CM000663.1:g.94486870G>A GRCh37
NC_000001.9:g.94259458G>A NCBI36
NG_009073.1:g.104836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4944C>T MANE Select ENSP00000359245.3:p.Ser1648=
ENST00000370225.3:c.4944C>T ENSP00000359245.3:p.Ser1648=
ENST00000460514.1:n.438C>T
ENST00000470771.1:n.54C>T
ENST00000536513.5:c.1320C>T ENSP00000439707.2:p.Ser440=
NM_000350.2:c.4944C>T NP_000341.2:p.Ser1648=
NM_000350.3:c.4944C>T MANE Select NP_000341.2:p.Ser1648=
Search 100 bp 5'
Search 100 bp 3'