Canonical Allele Identifier: CA418826400
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94544896T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079340T>G , CM000663.2:g.94079340T>G GRCh38
NC_000001.10:g.94544896T>G , CM000663.1:g.94544896T>G GRCh37
NC_000001.9:g.94317484T>G NCBI36
NG_009073.1:g.46810A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1221A>C MANE Select ENSP00000359245.3:p.Ala407=
ENST00000649773.1:c.1221A>C ENSP00000496882.1:p.Ala407=
ENST00000370225.3:c.1221A>C ENSP00000359245.3:p.Ala407=
NM_000350.2:c.1221A>C NP_000341.2:p.Ala407=
NM_000350.3:c.1221A>C MANE Select NP_000341.2:p.Ala407=