Canonical Allele Identifier: CA2646653601

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94111372-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111372G>C , CM000663.2:g.94111372G>C	GRCh38
NC_000001.10:g.94576928G>C , CM000663.1:g.94576928G>C	GRCh37
NC_000001.9:g.94349516G>C	NCBI36
NG_009073.1:g.14778C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.302+66C>G MANE Select	ENSP00000359245.3:n.302+66C>G
ENST00000649773.1:c.302+66C>G	ENSP00000496882.1:n.302+66C>G
ENST00000370225.3:c.302+66C>G	ENSP00000359245.3:n.302+66C>G
NM_000350.2:c.302+66C>G	NP_000341.2:n.302+66C>G
NM_000350.3:c.302+66C>G MANE Select	NP_000341.2:n.302+66C>G