Canonical Allele Identifier: CA341283189
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 427117
dbSNP Id: rs1085307968

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021385G>A , CM000663.2:g.94021385G>A GRCh38
NC_000001.10:g.94486941G>A , CM000663.1:g.94486941G>A GRCh37
NC_000001.9:g.94259529G>A NCBI36
NG_009073.1:g.104765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4873C>T MANE Select ENSP00000359245.3:p.His1625Tyr
ENST00000370225.3:c.4873C>T ENSP00000359245.3:p.His1625Tyr
ENST00000460514.1:n.367C>T
ENST00000536513.5:c.1249C>T ENSP00000439707.2:p.His417Tyr
NM_000350.2:c.4873C>T NP_000341.2:p.His1625Tyr
NM_000350.3:c.4873C>T MANE Select NP_000341.2:p.His1625Tyr