Canonical Allele Identifier: CA341277515

Gene: ABCA4

Linked Data

• COSMIC: COSM3401099
• MyVariant Identifiers: chr1:g.94466600C>T (hg19) ; chr1:g.94001044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001044C>T , CM000663.2:g.94001044C>T	GRCh38
NC_000001.10:g.94466600C>T , CM000663.1:g.94466600C>T	GRCh37
NC_000001.9:g.94239188C>T	NCBI36
NG_009073.1:g.125106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6344G>A MANE Select	ENSP00000359245.3:p.Ser2115Asn
ENST00000370225.3:c.6344G>A	ENSP00000359245.3:p.Ser2115Asn
ENST00000536513.5:c.2720G>A	ENSP00000439707.2:p.Ser907Asn
NM_000350.2:c.6344G>A	NP_000341.2:p.Ser2115Asn
NM_000350.3:c.6344G>A MANE Select	NP_000341.2:p.Ser2115Asn