Canonical Allele Identifier: CA396057364

Gene: CNGB1

Linked Data

• MyVariant Identifiers: chr16:g.57937767T>G (hg19) ; chr16:g.57903863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57903863T>G , CM000678.2:g.57903863T>G	GRCh38
NC_000016.9:g.57937767T>G , CM000678.1:g.57937767T>G	GRCh37
NC_000016.8:g.56495268T>G	NCBI36
NG_016351.1:g.72254A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.2753A>C MANE Select	ENSP00000251102.8:p.Lys918Thr
ENST00000251102.12:c.2753A>C	ENSP00000251102.8:p.Lys918Thr
ENST00000564448.5:c.2735A>C	ENSP00000454633.1:p.Lys912Thr
ENST00000569643.1:n.410A>C
NM_001286130.1:c.2735A>C	NP_001273059.1:p.Lys912Thr
NM_001297.4:c.2753A>C	NP_001288.3:p.Lys918Thr
XM_006721134.2:c.2753A>C	XP_006721197.1:p.Lys918Thr
XM_011522870.1:c.1604A>C	XP_011521172.1:p.Lys535Thr
XM_011522870.2:c.1604A>C	XP_011521172.1:p.Lys535Thr
NM_001286130.2:c.2735A>C	NP_001273059.1:p.Lys912Thr
NM_001297.5:c.2753A>C MANE Select	NP_001288.3:p.Lys918Thr