Canonical Allele Identifier: CA523426578

Gene: CTH

Linked Data

• dbSNP Id: rs1218329951
• gnomAD v2: 1-70904738-G-T
• gnomAD v3: 1-70439055-G-T
• gnomAD v4: 1-70439055-G-T
• MyVariant Identifiers: chr1:g.70904738G>T (hg19) ; chr1:g.70439055G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439055G>T , CM000663.2:g.70439055G>T	GRCh38
NC_000001.10:g.70904738G>T , CM000663.1:g.70904738G>T	GRCh37
NC_000001.9:g.70677326G>T	NCBI36
NG_008041.1:g.32784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370938.8:c.1192-46G>T MANE Select	ENSP00000359976.3:n.1192-46G>T
ENST00000346806.2:c.1060-46G>T	ENSP00000311554.2:n.1060-46G>T
ENST00000370938.7:c.1192-46G>T	ENSP00000359976.3:n.1192-46G>T
ENST00000411986.6:c.1096-46G>T	ENSP00000413407.2:n.1096-46G>T
ENST00000482383.1:n.467-46G>T
NM_001190463.1:c.1096-46G>T	NP_001177392.1:n.1096-46G>T
NM_001902.5:c.1192-46G>T	NP_001893.2:n.1192-46G>T
NM_153742.4:c.1060-46G>T	NP_714964.2:n.1060-46G>T
XM_005270509.2:c.865-46G>T	XP_005270566.1:n.865-46G>T
XM_011540787.1:c.622-46G>T	XP_011539089.1:n.622-46G>T
XM_005270509.3:c.865-46G>T	XP_005270566.1:n.865-46G>T
XM_017000416.2:c.622-46G>T	XP_016855905.1:n.622-46G>T
NM_001902.6:c.1192-46G>T MANE Select	NP_001893.2:n.1192-46G>T
NM_001190463.2:c.1096-46G>T	NP_001177392.1:n.1096-46G>T
NM_153742.5:c.1060-46G>T	NP_714964.2:n.1060-46G>T