Canonical Allele Identifier: CA566311

Gene: CAMTA1

Linked Data

• ClinVar Variation Id: 931080
• ClinVar RCV Id: RCV001197287 ; RCV003413980
• dbSNP Id: rs767725186
• ExAC: 1:7723458 G / A
• gnomAD v2: 1-7723458-G-A
• gnomAD v4: 1-7663398-G-A
• MyVariant Identifiers: chr1:g.7723458G>A (hg19) ; chr1:g.7663398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7663398G>A , CM000663.2:g.7663398G>A	GRCh38
NC_000001.10:g.7723458G>A , CM000663.1:g.7723458G>A	GRCh37
NC_000001.9:g.7646045G>A	NCBI36
NG_053148.1:g.883075G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000476864.2:c.851G>A	ENSP00000452319.2:p.Arg284His
ENST00000700414.1:c.*702G>A	ENSP00000514978.1:n.*702G>A
ENST00000700415.1:c.761G>A	ENSP00000514979.1:p.Arg254His
ENST00000700417.1:c.779G>A	ENSP00000514981.1:p.Arg260His
ENST00000700444.1:c.*620G>A	ENSP00000514992.1:n.*620G>A
ENST00000303635.12:c.851G>A MANE Select	ENSP00000306522.6:p.Arg284His
ENST00000303635.11:c.851G>A	ENSP00000306522.6:p.Arg284His
NM_015215.3:c.851G>A	NP_056030.1:p.Arg284His
XM_011541083.1:c.851G>A	XP_011539385.1:p.Arg284His
XM_011541084.1:c.851G>A	XP_011539386.1:p.Arg284His
XM_011541085.1:c.839G>A	XP_011539387.1:p.Arg280His
XM_011541086.1:c.851G>A	XP_011539388.1:p.Arg284His
XM_011541087.1:c.779G>A	XP_011539389.1:p.Arg260His
XM_011541088.1:c.761G>A	XP_011539390.1:p.Arg254His
XM_011541089.1:c.851G>A	XP_011539391.1:p.Arg284His
XM_011541090.1:c.851G>A	XP_011539392.1:p.Arg284His
XM_011541091.1:c.851G>A	XP_011539393.1:p.Arg284His
XM_011541092.1:c.851G>A	XP_011539394.1:p.Arg284His
NM_001349608.1:c.761G>A	NP_001336537.1:p.Arg254His
NM_001349609.1:c.851G>A	NP_001336538.1:p.Arg284His
NM_001349610.1:c.851G>A	NP_001336539.1:p.Arg284His
NM_001349612.1:c.761G>A	NP_001336541.1:p.Arg254His
XM_011541083.2:c.851G>A	XP_011539385.1:p.Arg284His
XM_011541084.2:c.851G>A	XP_011539386.1:p.Arg284His
XM_011541086.3:c.851G>A	XP_011539388.1:p.Arg284His
XM_011541087.2:c.779G>A	XP_011539389.1:p.Arg260His
XM_011541088.2:c.761G>A	XP_011539390.1:p.Arg254His
XM_011541090.3:c.851G>A	XP_011539392.1:p.Arg284His
XM_011541091.2:c.851G>A	XP_011539393.1:p.Arg284His
XM_011541092.3:c.851G>A	XP_011539394.1:p.Arg284His
XM_017000774.2:c.851G>A	XP_016856263.1:p.Arg284His
XM_017000777.1:c.851G>A	XP_016856266.1:p.Arg284His
XM_017000778.1:c.851G>A	XP_016856267.1:p.Arg284His
NM_015215.4:c.851G>A MANE Select	NP_056030.1:p.Arg284His
NM_001349608.2:c.761G>A	NP_001336537.1:p.Arg254His
NM_001349609.2:c.851G>A	NP_001336538.1:p.Arg284His
NM_001349610.2:c.851G>A	NP_001336539.1:p.Arg284His
NM_001349612.2:c.761G>A	NP_001336541.1:p.Arg254His