Canonical Allele Identifier: CA16042375
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372288
ClinVar RCV Id: RCV000414682
dbSNP Id: rs1057517700

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062680G>A , CM000663.2:g.94062680G>A GRCh38
NC_000001.10:g.94528236G>A , CM000663.1:g.94528236G>A GRCh37
NC_000001.9:g.94300824G>A NCBI36
NG_009073.1:g.63470C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1834C>T MANE Select ENSP00000359245.3:p.Gln612Ter
ENST00000649773.1:c.1834C>T ENSP00000496882.1:p.Gln612Ter
ENST00000370225.3:c.1834C>T ENSP00000359245.3:p.Gln612Ter
ENST00000536513.5:c.-65+494C>T ENSP00000439707.2:n.-65+494C>T
NM_000350.2:c.1834C>T NP_000341.2:p.Gln612Ter
NM_000350.3:c.1834C>T MANE Select NP_000341.2:p.Gln612Ter