Canonical Allele Identifier: CA341283602
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021662-A-G
MyVariant Identifiers: chr1:g.94487218A>G (hg19) chr1:g.94021662A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021662A>G , CM000663.2:g.94021662A>G GRCh38
NC_000001.10:g.94487218A>G , CM000663.1:g.94487218A>G GRCh37
NC_000001.9:g.94259806A>G NCBI36
NG_009073.1:g.104488T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4826T>C MANE Select ENSP00000359245.3:p.Leu1609Pro
ENST00000370225.3:c.4826T>C ENSP00000359245.3:p.Leu1609Pro
ENST00000460514.1:n.320T>C
ENST00000536513.5:c.1202T>C ENSP00000439707.2:p.Leu401Pro
NM_000350.2:c.4826T>C NP_000341.2:p.Leu1609Pro
NM_000350.3:c.4826T>C MANE Select NP_000341.2:p.Leu1609Pro
Search 100 bp 5'
Search 100 bp 3'