Canonical Allele Identifier: CA341278109
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94522361A>T (hg19) chr1:g.94056805A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056805A>T , CM000663.2:g.94056805A>T GRCh38
NC_000001.10:g.94522361A>T , CM000663.1:g.94522361A>T GRCh37
NC_000001.9:g.94294949A>T NCBI36
NG_009073.1:g.69345T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2178T>A MANE Select ENSP00000359245.3:p.His726Gln
ENST00000649773.1:c.2161-1490T>A ENSP00000496882.1:n.2161-1490T>A
ENST00000370225.3:c.2178T>A ENSP00000359245.3:p.His726Gln
ENST00000536513.5:c.-65+6369T>A ENSP00000439707.2:n.-65+6369T>A
NM_000350.2:c.2178T>A NP_000341.2:p.His726Gln
NM_000350.3:c.2178T>A MANE Select NP_000341.2:p.His726Gln
Search 100 bp 5'
Search 100 bp 3'