Canonical Allele Identifier: CA956837
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs748822256
ExAC: 1:94463514 G / A
gnomAD v2: 1-94463514-G-A
gnomAD v4: 1-93997958-G-A
MyVariant Identifiers: chr1:g.94463514G>A (hg19) chr1:g.93997958G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997958G>A , CM000663.2:g.93997958G>A GRCh38
NC_000001.10:g.94463514G>A , CM000663.1:g.94463514G>A GRCh37
NC_000001.9:g.94236102G>A NCBI36
NG_009073.1:g.128192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6632C>T MANE Select ENSP00000359245.3:p.Ser2211Phe
ENST00000370225.3:c.6632C>T ENSP00000359245.3:p.Ser2211Phe
ENST00000536513.5:c.3008C>T ENSP00000439707.2:p.Ser1003Phe
NM_000350.2:c.6632C>T NP_000341.2:p.Ser2211Phe
NM_000350.3:c.6632C>T MANE Select NP_000341.2:p.Ser2211Phe
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