Canonical Allele Identifier: CA341286516
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94031117-C-G
MyVariant Identifiers: chr1:g.94496673C>G (hg19) chr1:g.94031117C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031117C>G , CM000663.2:g.94031117C>G GRCh38
NC_000001.10:g.94496673C>G , CM000663.1:g.94496673C>G GRCh37
NC_000001.9:g.94269261C>G NCBI36
NG_009073.1:g.95033G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4132G>C MANE Select ENSP00000359245.3:p.Val1378Leu
ENST00000370225.3:c.4132G>C ENSP00000359245.3:p.Val1378Leu
ENST00000536513.5:c.508G>C ENSP00000439707.2:p.Val170Leu
NM_000350.2:c.4132G>C NP_000341.2:p.Val1378Leu
NM_000350.3:c.4132G>C MANE Select NP_000341.2:p.Val1378Leu
Search 100 bp 5'
Search 100 bp 3'