Canonical Allele Identifier: CA347831958

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012334G>C (hg19) ; chr2:g.98395871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395871G>C , CM000664.2:g.98395871G>C	GRCh38
NC_000002.11:g.99012334G>C , CM000664.1:g.99012334G>C	GRCh37
NC_000002.10:g.98378766G>C	NCBI36
NG_009097.1:g.54717G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.701G>C MANE Select	ENSP00000272602.2:p.Ser234Thr
ENST00000272602.6:c.701G>C	ENSP00000272602.2:p.Ser234Thr
ENST00000393504.5:c.701G>C	ENSP00000377140.1:p.Ser234Thr
ENST00000409937.1:c.713G>C	ENSP00000386761.1:p.Ser238Thr
ENST00000436404.6:c.647G>C	ENSP00000410070.2:p.Ser216Thr
NM_001079878.1:c.647G>C	NP_001073347.1:p.Ser216Thr
NM_001298.2:c.701G>C	NP_001289.1:p.Ser234Thr
XM_006712243.2:c.812G>C	XP_006712306.1:p.Ser271Thr
XM_011510554.1:c.866G>C	XP_011508856.1:p.Ser289Thr
XM_011510554.2:c.866G>C	XP_011508856.1:p.Ser289Thr
NM_001079878.2:c.647G>C	NP_001073347.1:p.Ser216Thr
NM_001298.3:c.701G>C MANE Select	NP_001289.1:p.Ser234Thr