Canonical Allele Identifier: CA9026096

Gene: ELANE

Linked Data

• ClinVar Variation Id: 242308
• ClinVar RCV Id: RCV000232592
• dbSNP Id: rs754277797
• ExAC: 19:855770 G / C
• gnomAD v2: 19-855770-G-C
• gnomAD v3: 19-855770-G-C
• gnomAD v4: 19-855770-G-C
• MyVariant Identifiers: chr19:g.855770G>C (hg19) ; chr19:g.855770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855770G>C , CM000681.2:g.855770G>C	GRCh38
NC_000019.9:g.855770G>C , CM000681.1:g.855770G>C	GRCh37
NC_000019.8:g.806770G>C	NCBI36
NG_007274.1:g.1106G>C , LRG_46:g.1106G>C
NG_009627.1:g.8480G>C , LRG_57:g.8480G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.573G>C MANE Select	ENSP00000263621.1:p.Arg191Ser
ENST00000263621.1:c.573G>C	ENSP00000263621.1:p.Arg191Ser
ENST00000590230.5:c.573G>C	ENSP00000466090.1:p.Arg191Ser
NM_001972.2:c.573G>C , LRG_57t1:c.573G>C	NP_001963.1:p.Arg191Ser
XM_011527775.1:c.573G>C	XP_011526077.1:p.Arg191Ser
XM_011527776.1:c.573G>C	XP_011526078.1:p.Arg191Ser
NM_001972.3:c.573G>C	NP_001963.1:p.Arg191Ser
NM_001972.4:c.573G>C MANE Select	NP_001963.1:p.Arg191Ser