Canonical Allele Identifier: CA7840072
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs775415505
ExAC: 16:2328441 C / G
gnomAD v2: 16-2328441-C-G
gnomAD v4: 16-2278440-C-G
MyVariant Identifiers: chr16:g.2328441C>G (hg19) chr16:g.2278440C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278440C>G , CM000678.2:g.2278440C>G GRCh38
NC_000016.9:g.2328441C>G , CM000678.1:g.2328441C>G GRCh37
NC_000016.8:g.2268442C>G NCBI36
NG_011790.1:g.67307G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4566G>C MANE Select ENSP00000301732.5:p.Lys1522Asn
ENST00000301732.9:c.4566G>C ENSP00000301732.5:p.Lys1522Asn
ENST00000382381.7:c.4392G>C ENSP00000371818.3:p.Lys1464Asn
ENST00000566200.1:n.1087G>C
NM_001089.2:c.4566G>C NP_001080.2:p.Lys1522Asn
NM_001089.3:c.4566G>C MANE Select NP_001080.2:p.Lys1522Asn
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