Canonical Allele Identifier: CA396057373

Gene: CNGB1

Linked Data

• MyVariant Identifiers: chr16:g.57937768T>G (hg19) ; chr16:g.57903864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57903864T>G , CM000678.2:g.57903864T>G	GRCh38
NC_000016.9:g.57937768T>G , CM000678.1:g.57937768T>G	GRCh37
NC_000016.8:g.56495269T>G	NCBI36
NG_016351.1:g.72253A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.2752A>C MANE Select	ENSP00000251102.8:p.Lys918Gln
ENST00000251102.12:c.2752A>C	ENSP00000251102.8:p.Lys918Gln
ENST00000564448.5:c.2734A>C	ENSP00000454633.1:p.Lys912Gln
ENST00000569643.1:n.409A>C
NM_001286130.1:c.2734A>C	NP_001273059.1:p.Lys912Gln
NM_001297.4:c.2752A>C	NP_001288.3:p.Lys918Gln
XM_006721134.2:c.2752A>C	XP_006721197.1:p.Lys918Gln
XM_011522870.1:c.1603A>C	XP_011521172.1:p.Lys535Gln
XM_011522870.2:c.1603A>C	XP_011521172.1:p.Lys535Gln
NM_001286130.2:c.2734A>C	NP_001273059.1:p.Lys912Gln
NM_001297.5:c.2752A>C MANE Select	NP_001288.3:p.Lys918Gln