Canonical Allele Identifier: CA418826250
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94506795T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041239T>C , CM000663.2:g.94041239T>C GRCh38
NC_000001.10:g.94506795T>C , CM000663.1:g.94506795T>C GRCh37
NC_000001.9:g.94279383T>C NCBI36
NG_009073.1:g.84911A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3492A>G MANE Select ENSP00000359245.3:p.Lys1164=
ENST00000370225.3:c.3492A>G ENSP00000359245.3:p.Lys1164=
ENST00000536513.5:c.-64-1150A>G ENSP00000439707.2:n.-64-1150A>G
NM_000350.2:c.3492A>G NP_000341.2:p.Lys1164=
NM_000350.3:c.3492A>G MANE Select NP_000341.2:p.Lys1164=