Canonical Allele Identifier: CA10762370

Gene: CAMTA1

Linked Data

• dbSNP Id: rs11120822
• gnomAD v2: 1-7113112-G-C
• gnomAD v3: 1-7053052-G-C
• gnomAD v4: 1-7053052-G-C
• MyVariant Identifiers: chr1:g.7113112G>C (hg19) ; chr1:g.7053052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7053052G>C , CM000663.2:g.7053052G>C	GRCh38
NC_000001.10:g.7113112G>C , CM000663.1:g.7113112G>C	GRCh37
NC_000001.9:g.7035699G>C	NCBI36
NG_053148.1:g.272729G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476864.2:c.235-38252G>C	ENSP00000452319.2:n.235-38252G>C
ENST00000700414.1:c.*86-38252G>C	ENSP00000514978.1:n.*86-38252G>C
ENST00000700415.1:c.145-38252G>C	ENSP00000514979.1:n.145-38252G>C
ENST00000700417.1:c.235-38252G>C	ENSP00000514981.1:n.235-38252G>C
ENST00000700444.1:c.*76-38252G>C	ENSP00000514992.1:n.*76-38252G>C
ENST00000303635.12:c.235-38252G>C MANE Select	ENSP00000306522.6:n.235-38252G>C
ENST00000303635.11:c.235-38252G>C	ENSP00000306522.6:n.235-38252G>C
NM_015215.3:c.235-38252G>C	NP_056030.1:n.235-38252G>C
XM_011541083.1:c.235-38252G>C	XP_011539385.1:n.235-38252G>C
XM_011541084.1:c.235-38252G>C	XP_011539386.1:n.235-38252G>C
XM_011541085.1:c.223-38252G>C	XP_011539387.1:n.223-38252G>C
XM_011541086.1:c.235-38252G>C	XP_011539388.1:n.235-38252G>C
XM_011541087.1:c.235-38252G>C	XP_011539389.1:n.235-38252G>C
XM_011541088.1:c.145-38252G>C	XP_011539390.1:n.145-38252G>C
XM_011541089.1:c.235-38252G>C	XP_011539391.1:n.235-38252G>C
XM_011541090.1:c.235-38252G>C	XP_011539392.1:n.235-38252G>C
XM_011541091.1:c.235-38252G>C	XP_011539393.1:n.235-38252G>C
XM_011541092.1:c.235-38252G>C	XP_011539394.1:n.235-38252G>C
NM_001349608.1:c.145-38252G>C	NP_001336537.1:n.145-38252G>C
NM_001349609.1:c.235-38252G>C	NP_001336538.1:n.235-38252G>C
NM_001349610.1:c.235-38252G>C	NP_001336539.1:n.235-38252G>C
NM_001349612.1:c.145-38252G>C	NP_001336541.1:n.145-38252G>C
XM_011541083.2:c.235-38252G>C	XP_011539385.1:n.235-38252G>C
XM_011541084.2:c.235-38252G>C	XP_011539386.1:n.235-38252G>C
XM_011541086.3:c.235-38252G>C	XP_011539388.1:n.235-38252G>C
XM_011541087.2:c.235-38252G>C	XP_011539389.1:n.235-38252G>C
XM_011541088.2:c.145-38252G>C	XP_011539390.1:n.145-38252G>C
XM_011541090.3:c.235-38252G>C	XP_011539392.1:n.235-38252G>C
XM_011541091.2:c.235-38252G>C	XP_011539393.1:n.235-38252G>C
XM_011541092.3:c.235-38252G>C	XP_011539394.1:n.235-38252G>C
XM_017000774.2:c.235-38252G>C	XP_016856263.1:n.235-38252G>C
XM_017000777.1:c.235-38252G>C	XP_016856266.1:n.235-38252G>C
XM_017000778.1:c.235-38252G>C	XP_016856267.1:n.235-38252G>C
XM_017000780.2:c.235-38252G>C	XP_016856269.1:n.235-38252G>C
NM_015215.4:c.235-38252G>C MANE Select	NP_056030.1:n.235-38252G>C
NM_001349608.2:c.145-38252G>C	NP_001336537.1:n.145-38252G>C
NM_001349609.2:c.235-38252G>C	NP_001336538.1:n.235-38252G>C
NM_001349610.2:c.235-38252G>C	NP_001336539.1:n.235-38252G>C
NM_001349612.2:c.145-38252G>C	NP_001336541.1:n.145-38252G>C