Canonical Allele Identifier: CA10611712

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298237
• ClinVar RCV Id: RCV000263027 ; RCV000315841 ; RCV000321629 ; RCV000374011 ; RCV001096335 ; RCV002520511
• dbSNP Id: rs886046564
• gnomAD v4: 1-94029452-G-A
• MyVariant Identifiers: chr1:g.94495008G>A (hg19) ; chr1:g.94029452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029452G>A , CM000663.2:g.94029452G>A	GRCh38
NC_000001.10:g.94495008G>A , CM000663.1:g.94495008G>A	GRCh37
NC_000001.9:g.94267596G>A	NCBI36
NG_009073.1:g.96698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4532C>T MANE Select	ENSP00000359245.3:p.Pro1511Leu
ENST00000370225.3:c.4532C>T	ENSP00000359245.3:p.Pro1511Leu
ENST00000536513.5:c.908C>T	ENSP00000439707.2:p.Pro303Leu
NM_000350.2:c.4532C>T	NP_000341.2:p.Pro1511Leu
NM_000350.3:c.4532C>T MANE Select	NP_000341.2:p.Pro1511Leu