Canonical Allele Identifier: CA276820687
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs974272283
gnomAD v2: 16-2328751-A-C
gnomAD v3: 16-2278750-A-C
gnomAD v4: 16-2278750-A-C
MyVariant Identifiers: chr16:g.2328751A>C (hg19) chr16:g.2278750A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278750A>C , CM000678.2:g.2278750A>C GRCh38
NC_000016.9:g.2328751A>C , CM000678.1:g.2328751A>C GRCh37
NC_000016.8:g.2268752A>C NCBI36
NG_011790.1:g.66997T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4547+193T>G MANE Select ENSP00000301732.5:n.4547+193T>G
ENST00000301732.9:c.4547+193T>G ENSP00000301732.5:n.4547+193T>G
ENST00000382381.7:c.4373+193T>G ENSP00000371818.3:n.4373+193T>G
ENST00000566200.1:n.1068+193T>G
NM_001089.2:c.4547+193T>G NP_001080.2:n.4547+193T>G
NM_001089.3:c.4547+193T>G MANE Select NP_001080.2:n.4547+193T>G
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