Canonical Allele Identifier: CA10583965
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 242298
ClinVar RCV Id: RCV000228433
dbSNP Id: rs878855321
gnomAD v4: 19-855965-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855965C>T , CM000681.2:g.855965C>T GRCh38
NC_000019.9:g.855965C>T , CM000681.1:g.855965C>T GRCh37
NC_000019.8:g.806965C>T NCBI36
NG_007274.1:g.1301C>T , LRG_46:g.1301C>T
NG_009627.1:g.8675C>T , LRG_57:g.8675C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.605C>T MANE Select ENSP00000263621.1:p.Ser202Phe
ENST00000263621.1:c.605C>T ENSP00000263621.1:p.Ser202Phe
ENST00000590230.5:c.605C>T ENSP00000466090.1:p.Ser202Phe
NM_001972.2:c.605C>T , LRG_57t1:c.605C>T NP_001963.1:p.Ser202Phe
XM_011527775.1:c.605C>T XP_011526077.1:p.Ser202Phe
XM_011527776.1:c.605C>T XP_011526078.1:p.Ser202Phe
NM_001972.3:c.605C>T NP_001963.1:p.Ser202Phe
NM_001972.4:c.605C>T MANE Select NP_001963.1:p.Ser202Phe