Canonical Allele Identifier: CA341278441
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1441572907
gnomAD v2: 1-94526107-T-C
gnomAD v4: 1-94060551-T-C
MyVariant Identifiers: chr1:g.94526107T>C (hg19) chr1:g.94060551T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060551T>C , CM000663.2:g.94060551T>C GRCh38
NC_000001.10:g.94526107T>C , CM000663.1:g.94526107T>C GRCh37
NC_000001.9:g.94298695T>C NCBI36
NG_009073.1:g.65599A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2146A>G MANE Select ENSP00000359245.3:p.Thr716Ala
ENST00000649773.1:c.2146A>G ENSP00000496882.1:p.Thr716Ala
ENST00000370225.3:c.2146A>G ENSP00000359245.3:p.Thr716Ala
ENST00000472033.1:n.266A>G
ENST00000536513.5:c.-65+2623A>G ENSP00000439707.2:n.-65+2623A>G
NM_000350.2:c.2146A>G NP_000341.2:p.Thr716Ala
NM_000350.3:c.2146A>G MANE Select NP_000341.2:p.Thr716Ala
Search 100 bp 5'
Search 100 bp 3'