Canonical Allele Identifier: CA371449979
Gene: CNGB3 HGNC NCBI

Linked Data

COSMIC: COSM3901889
MyVariant Identifiers: chr8:g.87680379G>C (hg19) chr8:g.86668151G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668151G>C , CM000670.2:g.86668151G>C GRCh38
NC_000008.10:g.87680379G>C , CM000670.1:g.87680379G>C GRCh37
NC_000008.9:g.87749495G>C NCBI36
NG_016980.1:g.80525C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.511C>G MANE Select ENSP00000316605.5:p.Pro171Ala
ENST00000681746.1:c.511C>G ENSP00000505959.1:p.Pro171Ala
ENST00000320005.5:c.511C>G ENSP00000316605.5:p.Pro171Ala
NM_019098.4:c.511C>G NP_061971.3:p.Pro171Ala
XM_011517138.1:c.97C>G XP_011515440.1:p.Pro33Ala
XM_011517138.2:c.97C>G XP_011515440.1:p.Pro33Ala
NM_019098.5:c.511C>G MANE Select NP_061971.3:p.Pro171Ala
Search 100 bp 5'
Search 100 bp 3'