Canonical Allele Identifier: CA973783456

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093650607
• gnomAD v3: 16-2278716-G-A
• gnomAD v4: 16-2278716-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278716G>A , CM000678.2:g.2278716G>A	GRCh38
NC_000016.9:g.2328717G>A , CM000678.1:g.2328717G>A	GRCh37
NC_000016.8:g.2268718G>A	NCBI36
NG_011790.1:g.67031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4547+227C>T MANE Select	ENSP00000301732.5:n.4547+227C>T
ENST00000301732.9:c.4547+227C>T	ENSP00000301732.5:n.4547+227C>T
ENST00000382381.7:c.4373+227C>T	ENSP00000371818.3:n.4373+227C>T
ENST00000566200.1:n.1068+227C>T
NM_001089.2:c.4547+227C>T	NP_001080.2:n.4547+227C>T
NM_001089.3:c.4547+227C>T MANE Select	NP_001080.2:n.4547+227C>T