Canonical Allele Identifier: CA276790673

Gene: ABCA3

Linked Data

• dbSNP Id: rs1041002244
• gnomAD v2: 16-2387294-T-C
• gnomAD v3: 16-2337293-T-C
• gnomAD v4: 16-2337293-T-C
• MyVariant Identifiers: chr16:g.2387294T>C (hg19) ; chr16:g.2337293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337293T>C , CM000678.2:g.2337293T>C	GRCh38
NC_000016.9:g.2387294T>C , CM000678.1:g.2387294T>C	GRCh37
NC_000016.8:g.2327295T>C	NCBI36
NG_011790.1:g.8454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3280A>G MANE Select	ENSP00000301732.5:n.-539+3280A>G
ENST00000301732.9:c.-539+3280A>G	ENSP00000301732.5:n.-539+3280A>G
ENST00000382381.7:c.-539+3280A>G	ENSP00000371818.3:n.-539+3280A>G
ENST00000563623.5:n.25+3280A>G
NM_001089.2:c.-539+3280A>G	NP_001080.2:n.-539+3280A>G
NM_001089.3:c.-539+3280A>G MANE Select	NP_001080.2:n.-539+3280A>G