Canonical Allele Identifier: CA341291140

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94506908C>A (hg19) ; chr1:g.94041352C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041352C>A , CM000663.2:g.94041352C>A	GRCh38
NC_000001.10:g.94506908C>A , CM000663.1:g.94506908C>A	GRCh37
NC_000001.9:g.94279496C>A	NCBI36
NG_009073.1:g.84798G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.3379G>T MANE Select	ENSP00000359245.3:p.Gly1127Trp
ENST00000370225.3:c.3379G>T	ENSP00000359245.3:p.Gly1127Trp
ENST00000536513.5:c.-64-1263G>T	ENSP00000439707.2:n.-64-1263G>T
NM_000350.2:c.3379G>T	NP_000341.2:p.Gly1127Trp
NM_000350.3:c.3379G>T MANE Select	NP_000341.2:p.Gly1127Trp