Canonical Allele Identifier: CA8708184

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs559466907
• ExAC: 17:61995110 C / T
• gnomAD v2: 17-61995110-C-T
• gnomAD v3: 17-63917750-C-T
• gnomAD v4: 17-63917750-C-T
• MyVariant Identifiers: chr17:g.61995110C>T (hg19) ; chr17:g.63917750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917750C>T , CM000679.2:g.63917750C>T	GRCh38
NC_000017.10:g.61995110C>T , CM000679.1:g.61995110C>T	GRCh37
NC_000017.9:g.59348842C>T	NCBI36
NG_011676.1:g.6089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.456+10G>A (GH1) MANE Select	ENSP00000312673.5:n.456+10G>A
ENST00000647774.1:c.734+10G>A
ENST00000323322.9:c.456+10G>A (GH1)	ENSP00000312673.5:n.456+10G>A
ENST00000342364.8:c.172-244G>A (GH1)	ENSP00000339278.4:n.172-244G>A
ENST00000351388.8:c.336+10G>A (GH1)	ENSP00000343791.4:n.336+10G>A
ENST00000392824.8:c.10+1017G>A (CSHL1)	ENSP00000376569.5:n.10+1017G>A
ENST00000458650.6:c.411+10G>A (GH1)	ENSP00000408486.2:n.411+10G>A
ENST00000579711.1:n.817+10G>A (GH1)
ENST00000617086.1:c.11-244G>A (GH1)	ENSP00000481276.1:n.11-244G>A
NM_000515.4:c.456+10G>A (GH1)	NP_000506.2:n.456+10G>A
NM_022559.3:c.411+10G>A (GH1)	NP_072053.1:n.411+10G>A
NM_022560.3:c.336+10G>A (GH1)	NP_072054.1:n.336+10G>A
XM_011524612.1:c.456+10G>A (GH1)	XP_011522914.1:n.456+10G>A
XR_002958148.1:n.389-40C>T
NM_000515.5:c.456+10G>A (GH1) MANE Select	NP_000506.2:n.456+10G>A
NM_022559.4:c.411+10G>A (GH1)	NP_072053.1:n.411+10G>A
NM_022560.4:c.336+10G>A (GH1)	NP_072054.1:n.336+10G>A