Canonical Allele Identifier: CA341283764
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM3671846
MyVariant Identifiers: chr1:g.94487404C>A (hg19) chr1:g.94021848C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021848C>A , CM000663.2:g.94021848C>A GRCh38
NC_000001.10:g.94487404C>A , CM000663.1:g.94487404C>A GRCh37
NC_000001.9:g.94259992C>A NCBI36
NG_009073.1:g.104302G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4771G>T MANE Select ENSP00000359245.3:p.Gly1591Trp
ENST00000370225.3:c.4771G>T ENSP00000359245.3:p.Gly1591Trp
ENST00000460514.1:n.265G>T
ENST00000536513.5:c.1147G>T ENSP00000439707.2:p.Gly383Trp
NM_000350.2:c.4771G>T NP_000341.2:p.Gly1591Trp
NM_000350.3:c.4771G>T MANE Select NP_000341.2:p.Gly1591Trp
Search 100 bp 5'
Search 100 bp 3'