Canonical Allele Identifier: CA227276

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99347
• ClinVar RCV Id: RCV000085700 ; RCV001073775 ; RCV001196794 ; RCV001353027 ; RCV001449733
• dbSNP Id: rs61748532
• ExAC: 1:94568627 C / T
• gnomAD v2: 1-94568627-C-T
• gnomAD v3: 1-94103071-C-T
• gnomAD v4: 1-94103071-C-T
• MyVariant Identifiers: chr1:g.94568627C>T (hg19) ; chr1:g.94103071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94103071C>T , CM000663.2:g.94103071C>T	GRCh38
NC_000001.10:g.94568627C>T , CM000663.1:g.94568627C>T	GRCh37
NC_000001.9:g.94341215C>T	NCBI36
NG_009073.1:g.23079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.514G>A MANE Select	ENSP00000359245.3:p.Gly172Ser
ENST00000649773.1:c.514G>A	ENSP00000496882.1:p.Gly172Ser
ENST00000370225.3:c.514G>A	ENSP00000359245.3:p.Gly172Ser
NM_000350.2:c.514G>A	NP_000341.2:p.Gly172Ser
NM_000350.3:c.514G>A MANE Select	NP_000341.2:p.Gly172Ser