Canonical Allele Identifier: CA402918924

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1484002
• ClinVar RCV Id: RCV002003362
• dbSNP Id: rs2035674003
• MyVariant Identifiers: chr19:g.855979G>T (hg19) ; chr19:g.855979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855979G>T , CM000681.2:g.855979G>T	GRCh38
NC_000019.9:g.855979G>T , CM000681.1:g.855979G>T	GRCh37
NC_000019.8:g.806979G>T	NCBI36
NG_007274.1:g.1315G>T , LRG_46:g.1315G>T
NG_009627.1:g.8689G>T , LRG_57:g.8689G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.619G>T MANE Select	ENSP00000263621.1:p.Val207Phe
ENST00000263621.1:c.619G>T	ENSP00000263621.1:p.Val207Phe
ENST00000590230.5:c.619G>T	ENSP00000466090.1:p.Val207Phe
NM_001972.2:c.619G>T , LRG_57t1:c.619G>T	NP_001963.1:p.Val207Phe
XM_011527775.1:c.619G>T	XP_011526077.1:p.Val207Phe
XM_011527776.1:c.619G>T	XP_011526078.1:p.Val207Phe
NM_001972.3:c.619G>T	NP_001963.1:p.Val207Phe
NM_001972.4:c.619G>T MANE Select	NP_001963.1:p.Val207Phe