Canonical Allele Identifier: CA396057353

Gene: CNGB1

Linked Data

• MyVariant Identifiers: chr16:g.57937766C>G (hg19) ; chr16:g.57903862C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57903862C>G , CM000678.2:g.57903862C>G	GRCh38
NC_000016.9:g.57937766C>G , CM000678.1:g.57937766C>G	GRCh37
NC_000016.8:g.56495267C>G	NCBI36
NG_016351.1:g.72255G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.2754G>C MANE Select	ENSP00000251102.8:p.Lys918Asn
ENST00000251102.12:c.2754G>C	ENSP00000251102.8:p.Lys918Asn
ENST00000564448.5:c.2736G>C	ENSP00000454633.1:p.Lys912Asn
ENST00000569643.1:n.411G>C
NM_001286130.1:c.2736G>C	NP_001273059.1:p.Lys912Asn
NM_001297.4:c.2754G>C	NP_001288.3:p.Lys918Asn
XM_006721134.2:c.2754G>C	XP_006721197.1:p.Lys918Asn
XM_011522870.1:c.1605G>C	XP_011521172.1:p.Lys535Asn
XM_011522870.2:c.1605G>C	XP_011521172.1:p.Lys535Asn
NM_001286130.2:c.2736G>C	NP_001273059.1:p.Lys912Asn
NM_001297.5:c.2754G>C MANE Select	NP_001288.3:p.Lys918Asn