Canonical Allele Identifier: CA341276226
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997863-G-T
MyVariant Identifiers: chr1:g.94463419G>T (hg19) chr1:g.93997863G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997863G>T , CM000663.2:g.93997863G>T GRCh38
NC_000001.10:g.94463419G>T , CM000663.1:g.94463419G>T GRCh37
NC_000001.9:g.94236007G>T NCBI36
NG_009073.1:g.128287C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6727C>A MANE Select ENSP00000359245.3:p.Gln2243Lys
ENST00000370225.3:c.6727C>A ENSP00000359245.3:p.Gln2243Lys
ENST00000536513.5:c.3103C>A ENSP00000439707.2:p.Gln1035Lys
NM_000350.2:c.6727C>A NP_000341.2:p.Gln2243Lys
NM_000350.3:c.6727C>A MANE Select NP_000341.2:p.Gln2243Lys
Search 100 bp 5'
Search 100 bp 3'