Canonical Allele Identifier: CA620708307

Gene: ABCA3

Linked Data

• dbSNP Id: rs150929
• gnomAD v2: 16-2328650-G-C
• gnomAD v3: 16-2278649-G-C
• gnomAD v4: 16-2278649-G-C
• MyVariant Identifiers: chr16:g.2328650G>C (hg19) ; chr16:g.2278649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278649G>C , CM000678.2:g.2278649G>C	GRCh38
NC_000016.9:g.2328650G>C , CM000678.1:g.2328650G>C	GRCh37
NC_000016.8:g.2268651G>C	NCBI36
NG_011790.1:g.67098C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-191C>G MANE Select	ENSP00000301732.5:n.4548-191C>G
ENST00000301732.9:c.4548-191C>G	ENSP00000301732.5:n.4548-191C>G
ENST00000382381.7:c.4374-191C>G	ENSP00000371818.3:n.4374-191C>G
ENST00000566200.1:n.1069-191C>G
NM_001089.2:c.4548-191C>G	NP_001080.2:n.4548-191C>G
NM_001089.3:c.4548-191C>G MANE Select	NP_001080.2:n.4548-191C>G