Canonical Allele Identifier: CA226949

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99096
• ClinVar RCV Id: RCV000085440 ; RCV000408491
• dbSNP Id: rs61749414
• gnomAD v3: 1-94062611-G-A
• gnomAD v4: 1-94062611-G-A
• MyVariant Identifiers: chr1:g.94528167G>A (hg19) ; chr1:g.94062611G>A (hg38)
• PubMed: PMID:10958763 ; PMID:25525159 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062611G>A , CM000663.2:g.94062611G>A	GRCh38
NC_000001.10:g.94528167G>A , CM000663.1:g.94528167G>A	GRCh37
NC_000001.9:g.94300755G>A	NCBI36
NG_009073.1:g.63539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1903C>T MANE Select	ENSP00000359245.3:p.Gln635Ter
ENST00000649773.1:c.1903C>T	ENSP00000496882.1:p.Gln635Ter
ENST00000370225.3:c.1903C>T	ENSP00000359245.3:p.Gln635Ter
ENST00000536513.5:c.-65+563C>T	ENSP00000439707.2:n.-65+563C>T
NM_000350.2:c.1903C>T	NP_000341.2:p.Gln635Ter
NM_000350.3:c.1903C>T MANE Select	NP_000341.2:p.Gln635Ter