Canonical Allele Identifier: CA956832
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs781494461
ExAC: 1:94463490 A / G
gnomAD v2: 1-94463490-A-G
gnomAD v4: 1-93997934-A-G
MyVariant Identifiers: chr1:g.94463490A>G (hg19) chr1:g.93997934A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997934A>G , CM000663.2:g.93997934A>G GRCh38
NC_000001.10:g.94463490A>G , CM000663.1:g.94463490A>G GRCh37
NC_000001.9:g.94236078A>G NCBI36
NG_009073.1:g.128216T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6656T>C MANE Select ENSP00000359245.3:p.Phe2219Ser
ENST00000370225.3:c.6656T>C ENSP00000359245.3:p.Phe2219Ser
ENST00000536513.5:c.3032T>C ENSP00000439707.2:p.Phe1011Ser
NM_000350.2:c.6656T>C NP_000341.2:p.Phe2219Ser
NM_000350.3:c.6656T>C MANE Select NP_000341.2:p.Phe2219Ser
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