Canonical Allele Identifier: CA627150077

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs1387136126
• gnomAD v2: 17-61994989-G-C
• gnomAD v3: 17-63917629-G-C
• gnomAD v4: 17-63917629-G-C
• MyVariant Identifiers: chr17:g.61994989G>C (hg19) ; chr17:g.63917629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917629G>C , CM000679.2:g.63917629G>C	GRCh38
NC_000017.10:g.61994989G>C , CM000679.1:g.61994989G>C	GRCh37
NC_000017.9:g.59348721G>C	NCBI36
NG_011676.1:g.6210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.457-123C>G (GH1) MANE Select	ENSP00000312673.5:n.457-123C>G
ENST00000647774.1:c.735-123C>G
ENST00000323322.9:c.457-123C>G (GH1)	ENSP00000312673.5:n.457-123C>G
ENST00000342364.8:c.172-123C>G (GH1)	ENSP00000339278.4:n.172-123C>G
ENST00000351388.8:c.337-123C>G (GH1)	ENSP00000343791.4:n.337-123C>G
ENST00000392824.8:c.10+1138C>G (CSHL1)	ENSP00000376569.5:n.10+1138C>G
ENST00000458650.6:c.412-123C>G (GH1)	ENSP00000408486.2:n.412-123C>G
ENST00000579711.1:n.818-123C>G (GH1)
ENST00000617086.1:c.11-123C>G (GH1)	ENSP00000481276.1:n.11-123C>G
NM_000515.4:c.457-123C>G (GH1)	NP_000506.2:n.457-123C>G
NM_022559.3:c.412-123C>G (GH1)	NP_072053.1:n.412-123C>G
NM_022560.3:c.337-123C>G (GH1)	NP_072054.1:n.337-123C>G
XM_011524612.1:c.457-123C>G (GH1)	XP_011522914.1:n.457-123C>G
XR_002958148.1:n.373G>C
NM_000515.5:c.457-123C>G (GH1) MANE Select	NP_000506.2:n.457-123C>G
NM_022559.4:c.412-123C>G (GH1)	NP_072053.1:n.412-123C>G
NM_022560.4:c.337-123C>G (GH1)	NP_072054.1:n.337-123C>G