Canonical Allele Identifier: CA7841472

Gene: ABCA3

Linked Data

• dbSNP Id: rs375788368
• ExAC: 16:2367800 G / A
• gnomAD v2: 16-2367800-G-A
• gnomAD v3: 16-2317799-G-A
• gnomAD v4: 16-2317799-G-A
• MyVariant Identifiers: chr16:g.2367800G>A (hg19) ; chr16:g.2317799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2317799G>A , CM000678.2:g.2317799G>A	GRCh38
NC_000016.9:g.2367800G>A , CM000678.1:g.2367800G>A	GRCh37
NC_000016.8:g.2307801G>A	NCBI36
NG_011790.1:g.27948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.874-35C>T MANE Select	ENSP00000301732.5:n.874-35C>T
ENST00000301732.9:c.874-35C>T	ENSP00000301732.5:n.874-35C>T
ENST00000382381.7:c.874-35C>T	ENSP00000371818.3:n.874-35C>T
ENST00000563623.5:n.1437-35C>T
NM_001089.2:c.874-35C>T	NP_001080.2:n.874-35C>T
NM_001089.3:c.874-35C>T MANE Select	NP_001080.2:n.874-35C>T