Canonical Allele Identifier: CA349750885
Gene: FRZB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838599C>G , CM000664.2:g.182838599C>G GRCh38
NC_000002.11:g.183703327C>G , CM000664.1:g.183703327C>G GRCh37
NC_000002.10:g.183411572C>G NCBI36
NG_017197.1:g.33172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.607G>C MANE Select ENSP00000295113.4:p.Val203Leu
ENST00000295113.4:c.607G>C ENSP00000295113.4:p.Val203Leu
NM_001463.3:c.607G>C NP_001454.2:p.Val203Leu
NM_001463.4:c.607G>C MANE Select NP_001454.2:p.Val203Leu