Canonical Allele Identifier: CA126122

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 15983
• ClinVar RCV Id: RCV000017353 ; RCV000992079
• dbSNP Id: rs137853223
• gnomAD v2: 17-61994697-C-T
• gnomAD v3: 17-63917337-C-T
• gnomAD v4: 17-63917337-C-T
• MyVariant Identifiers: chr17:g.61994697C>T (hg19) ; chr17:g.63917337C>T (hg38)
• PubMed: PMID:9554464 ; PMID:17785368

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917337C>T , CM000679.2:g.63917337C>T	GRCh38
NC_000017.10:g.61994697C>T , CM000679.1:g.61994697C>T	GRCh37
NC_000017.9:g.59348429C>T	NCBI36
NG_011676.1:g.6502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.626G>A (GH1) MANE Select	ENSP00000312673.5:p.Arg209His
ENST00000647774.1:c.904G>A
ENST00000323322.9:c.626G>A (GH1)	ENSP00000312673.5:p.Arg209His
ENST00000342364.8:c.341G>A (GH1)	ENSP00000339278.4:p.Arg114His
ENST00000351388.8:c.506G>A (GH1)	ENSP00000343791.4:p.Arg169His
ENST00000392824.8:c.10+1430G>A (CSHL1)	ENSP00000376569.5:n.10+1430G>A
ENST00000458650.6:c.581G>A (GH1)	ENSP00000408486.2:p.Arg194His
ENST00000617086.1:c.*87G>A (GH1)	ENSP00000481276.1:n.*87G>A
NM_000515.4:c.626G>A (GH1)	NP_000506.2:p.Arg209His
NM_022559.3:c.581G>A (GH1)	NP_072053.1:p.Arg194His
NM_022560.3:c.506G>A (GH1)	NP_072054.1:p.Arg169His
XM_011524612.1:c.626G>A (GH1)	XP_011522914.1:p.Arg209His
XR_002958148.1:n.341-260C>T
NM_000515.5:c.626G>A (GH1) MANE Select	NP_000506.2:p.Arg209His
NM_022559.4:c.581G>A (GH1)	NP_072053.1:p.Arg194His
NM_022560.4:c.506G>A (GH1)	NP_072054.1:p.Arg169His