Canonical Allele Identifier: CA631295822
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1220614
ClinVar RCV Id: RCV001595176
dbSNP Id: rs1366725236
gnomAD v2: 19-856204-C-G
gnomAD v3: 19-856204-C-G
gnomAD v4: 19-856204-C-G
MyVariant Identifiers: chr19:g.856204C>G (hg19) chr19:g.856204C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856204C>G , CM000681.2:g.856204C>G GRCh38
NC_000019.9:g.856204C>G , CM000681.1:g.856204C>G GRCh37
NC_000019.8:g.807204C>G NCBI36
NG_007274.1:g.1540C>G , LRG_46:g.1540C>G
NG_009627.1:g.8914C>G , LRG_57:g.8914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*40C>G MANE Select ENSP00000263621.1:n.*40C>G
ENST00000263621.1:c.*40C>G ENSP00000263621.1:n.*40C>G
ENST00000590230.5:c.*40C>G ENSP00000466090.1:n.*40C>G
NM_001972.2:c.*40C>G , LRG_57t1:c.*40C>G NP_001963.1:n.*40C>G
XM_011527775.1:c.*40C>G XP_011526077.1:n.*40C>G
XM_011527776.1:c.*40C>G XP_011526078.1:n.*40C>G
NM_001972.3:c.*40C>G NP_001963.1:n.*40C>G
NM_001972.4:c.*40C>G MANE Select NP_001963.1:n.*40C>G
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