Canonical Allele Identifier: CA416026785

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 2855217
• ClinVar RCV Id: RCV003701305
• dbSNP Id: rs1375123180
• gnomAD v3: 1-7663810-C-T
• gnomAD v4: 1-7663810-C-T
• MyVariant Identifiers: chr1:g.7723870C>T (hg19) ; chr1:g.7663810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663810C>T , CM000663.2:g.7663810C>T	GRCh38
NC_000001.10:g.7723870C>T , CM000663.1:g.7723870C>T	GRCh37
NC_000001.9:g.7646457C>T	NCBI36
NG_053148.1:g.883487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476864.2:c.1263C>T	ENSP00000452319.2:p.His421=
ENST00000700414.1:c.*1114C>T	ENSP00000514978.1:n.*1114C>T
ENST00000700415.1:c.1173C>T	ENSP00000514979.1:p.His391=
ENST00000700417.1:c.1191C>T	ENSP00000514981.1:p.His397=
ENST00000700444.1:c.*1032C>T	ENSP00000514992.1:n.*1032C>T
ENST00000303635.12:c.1263C>T MANE Select	ENSP00000306522.6:p.His421=
ENST00000303635.11:c.1263C>T	ENSP00000306522.6:p.His421=
NM_015215.3:c.1263C>T	NP_056030.1:p.His421=
XM_011541083.1:c.1263C>T	XP_011539385.1:p.His421=
XM_011541084.1:c.1263C>T	XP_011539386.1:p.His421=
XM_011541085.1:c.1251C>T	XP_011539387.1:p.His417=
XM_011541086.1:c.1263C>T	XP_011539388.1:p.His421=
XM_011541087.1:c.1191C>T	XP_011539389.1:p.His397=
XM_011541088.1:c.1173C>T	XP_011539390.1:p.His391=
XM_011541089.1:c.1263C>T	XP_011539391.1:p.His421=
XM_011541090.1:c.1263C>T	XP_011539392.1:p.His421=
XM_011541091.1:c.1263C>T	XP_011539393.1:p.His421=
XM_011541092.1:c.1263C>T	XP_011539394.1:p.His421=
NM_001349608.1:c.1173C>T	NP_001336537.1:p.His391=
NM_001349609.1:c.1263C>T	NP_001336538.1:p.His421=
NM_001349610.1:c.1263C>T	NP_001336539.1:p.His421=
NM_001349612.1:c.1173C>T	NP_001336541.1:p.His391=
XM_011541083.2:c.1263C>T	XP_011539385.1:p.His421=
XM_011541084.2:c.1263C>T	XP_011539386.1:p.His421=
XM_011541086.3:c.1263C>T	XP_011539388.1:p.His421=
XM_011541087.2:c.1191C>T	XP_011539389.1:p.His397=
XM_011541088.2:c.1173C>T	XP_011539390.1:p.His391=
XM_011541090.3:c.1263C>T	XP_011539392.1:p.His421=
XM_011541091.2:c.1263C>T	XP_011539393.1:p.His421=
XM_011541092.3:c.1263C>T	XP_011539394.1:p.His421=
XM_017000774.2:c.1263C>T	XP_016856263.1:p.His421=
XM_017000777.1:c.1263C>T	XP_016856266.1:p.His421=
XM_017000778.1:c.1263C>T	XP_016856267.1:p.His421=
NM_015215.4:c.1263C>T MANE Select	NP_056030.1:p.His421=
NM_001349608.2:c.1173C>T	NP_001336537.1:p.His391=
NM_001349609.2:c.1263C>T	NP_001336538.1:p.His421=
NM_001349610.2:c.1263C>T	NP_001336539.1:p.His421=
NM_001349612.2:c.1173C>T	NP_001336541.1:p.His391=