Canonical Allele Identifier: CA1004570000

Gene: ABCA4

Linked Data

• dbSNP Id: rs527854457
• gnomAD v3: 1-93997785-T-A
• gnomAD v4: 1-93997785-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997785T>A , CM000663.2:g.93997785T>A	GRCh38
NC_000001.10:g.94463341T>A , CM000663.1:g.94463341T>A	GRCh37
NC_000001.9:g.94235929T>A	NCBI36
NG_009073.1:g.128365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+76A>T MANE Select	ENSP00000359245.3:n.6729+76A>T
ENST00000370225.3:c.6729+76A>T	ENSP00000359245.3:n.6729+76A>T
ENST00000536513.5:c.3105+76A>T	ENSP00000439707.2:n.3105+76A>T
NM_000350.2:c.6729+76A>T	NP_000341.2:n.6729+76A>T
NM_000350.3:c.6729+76A>T MANE Select	NP_000341.2:n.6729+76A>T