Canonical Allele Identifier: CA396057309

Gene: CNGB1

Linked Data

• MyVariant Identifiers: chr16:g.57937758T>A (hg19) ; chr16:g.57903854T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57903854T>A , CM000678.2:g.57903854T>A	GRCh38
NC_000016.9:g.57937758T>A , CM000678.1:g.57937758T>A	GRCh37
NC_000016.8:g.56495259T>A	NCBI36
NG_016351.1:g.72263A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251102.13:c.2762A>T MANE Select	ENSP00000251102.8:p.Tyr921Phe
ENST00000251102.12:c.2762A>T	ENSP00000251102.8:p.Tyr921Phe
ENST00000564448.5:c.2744A>T	ENSP00000454633.1:p.Tyr915Phe
ENST00000569643.1:n.419A>T
NM_001286130.1:c.2744A>T	NP_001273059.1:p.Tyr915Phe
NM_001297.4:c.2762A>T	NP_001288.3:p.Tyr921Phe
XM_006721134.2:c.2762A>T	XP_006721197.1:p.Tyr921Phe
XM_011522870.1:c.1613A>T	XP_011521172.1:p.Tyr538Phe
XM_011522870.2:c.1613A>T	XP_011521172.1:p.Tyr538Phe
NM_001286130.2:c.2744A>T	NP_001273059.1:p.Tyr915Phe
NM_001297.5:c.2762A>T MANE Select	NP_001288.3:p.Tyr921Phe