Canonical Allele Identifier: CA7840036
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs766510841
ExAC: 16:2328249 G / A
gnomAD v2: 16-2328249-G-A
gnomAD v3: 16-2278248-G-A
gnomAD v4: 16-2278248-G-A
MyVariant Identifiers: chr16:g.2328249G>A (hg19) chr16:g.2278248G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278248G>A , CM000678.2:g.2278248G>A GRCh38
NC_000016.9:g.2328249G>A , CM000678.1:g.2328249G>A GRCh37
NC_000016.8:g.2268250G>A NCBI36
NG_011790.1:g.67499C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4718+40C>T MANE Select ENSP00000301732.5:n.4718+40C>T
ENST00000301732.9:c.4718+40C>T ENSP00000301732.5:n.4718+40C>T
ENST00000382381.7:c.4544+40C>T ENSP00000371818.3:n.4544+40C>T
NM_001089.2:c.4718+40C>T NP_001080.2:n.4718+40C>T
NM_001089.3:c.4718+40C>T MANE Select NP_001080.2:n.4718+40C>T
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