Canonical Allele Identifier: CA7840497

Gene: ABCA3

Linked Data

• dbSNP Id: rs768303400
• ExAC: 16:2335403 G / A
• gnomAD v2: 16-2335403-G-A
• gnomAD v3: 16-2285402-G-A
• gnomAD v4: 16-2285402-G-A
• MyVariant Identifiers: chr16:g.2335403G>A (hg19) ; chr16:g.2285402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2285402G>A , CM000678.2:g.2285402G>A	GRCh38
NC_000016.9:g.2335403G>A , CM000678.1:g.2335403G>A	GRCh37
NC_000016.8:g.2275404G>A	NCBI36
NG_011790.1:g.60345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3483+40C>T MANE Select	ENSP00000301732.5:n.3483+40C>T
ENST00000301732.9:c.3483+40C>T	ENSP00000301732.5:n.3483+40C>T
ENST00000382381.7:c.3309+40C>T	ENSP00000371818.3:n.3309+40C>T
NM_001089.2:c.3483+40C>T	NP_001080.2:n.3483+40C>T
NM_001089.3:c.3483+40C>T MANE Select	NP_001080.2:n.3483+40C>T