Canonical Allele Identifier: CA394324742

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2289469-C-A
• MyVariant Identifiers: chr16:g.2339470C>A (hg19) ; chr16:g.2289469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2289469C>A , CM000678.2:g.2289469C>A	GRCh38
NC_000016.9:g.2339470C>A , CM000678.1:g.2339470C>A	GRCh37
NC_000016.8:g.2279471C>A	NCBI36
NG_011790.1:g.56278G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.2665G>T MANE Select	ENSP00000301732.5:p.Glu889Ter
ENST00000301732.9:c.2665G>T	ENSP00000301732.5:p.Glu889Ter
ENST00000382381.7:c.2491G>T	ENSP00000371818.3:p.Glu831Ter
ENST00000563623.5:n.3228G>T
NM_001089.2:c.2665G>T	NP_001080.2:p.Glu889Ter
NM_001089.3:c.2665G>T MANE Select	NP_001080.2:p.Glu889Ter