Canonical Allele Identifier: CA8708177

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 2958339
• ClinVar RCV Id: RCV003814587
• dbSNP Id: rs61735351
• ExAC: 17:61995101 C / T
• gnomAD v2: 17-61995101-C-T
• gnomAD v3: 17-63917741-C-T
• gnomAD v4: 17-63917741-C-T
• MyVariant Identifiers: chr17:g.61995101C>T (hg19) ; chr17:g.63917741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917741C>T , CM000679.2:g.63917741C>T	GRCh38
NC_000017.10:g.61995101C>T , CM000679.1:g.61995101C>T	GRCh37
NC_000017.9:g.59348833C>T	NCBI36
NG_011676.1:g.6098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.456+19G>A (GH1) MANE Select	ENSP00000312673.5:n.456+19G>A
ENST00000647774.1:c.734+19G>A
ENST00000323322.9:c.456+19G>A (GH1)	ENSP00000312673.5:n.456+19G>A
ENST00000342364.8:c.172-235G>A (GH1)	ENSP00000339278.4:n.172-235G>A
ENST00000351388.8:c.336+19G>A (GH1)	ENSP00000343791.4:n.336+19G>A
ENST00000392824.8:c.10+1026G>A (CSHL1)	ENSP00000376569.5:n.10+1026G>A
ENST00000458650.6:c.411+19G>A (GH1)	ENSP00000408486.2:n.411+19G>A
ENST00000579711.1:n.817+19G>A (GH1)
ENST00000617086.1:c.11-235G>A (GH1)	ENSP00000481276.1:n.11-235G>A
NM_000515.4:c.456+19G>A (GH1)	NP_000506.2:n.456+19G>A
NM_022559.3:c.411+19G>A (GH1)	NP_072053.1:n.411+19G>A
NM_022560.3:c.336+19G>A (GH1)	NP_072054.1:n.336+19G>A
XM_011524612.1:c.456+19G>A (GH1)	XP_011522914.1:n.456+19G>A
XR_002958148.1:n.389-49C>T
NM_000515.5:c.456+19G>A (GH1) MANE Select	NP_000506.2:n.456+19G>A
NM_022559.4:c.411+19G>A (GH1)	NP_072053.1:n.411+19G>A
NM_022560.4:c.336+19G>A (GH1)	NP_072054.1:n.336+19G>A