Canonical Allele Identifier: CA2077093

Gene: FZD5

Linked Data

• ClinVar Variation Id: 1541758
• ClinVar RCV Id: RCV002179565 ; RCV004543704
• dbSNP Id: rs4675711
• ExAC: 2:208633413 T / C
• gnomAD v2: 2-208633413-T-C
• gnomAD v3: 2-207768689-T-C
• gnomAD v4: 2-207768689-T-C
• MyVariant Identifiers: chr2:g.208633413T>C (hg19) ; chr2:g.207768689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.207768689T>C , CM000664.2:g.207768689T>C	GRCh38
NC_000002.11:g.208633413T>C , CM000664.1:g.208633413T>C	GRCh37
NC_000002.10:g.208341658T>C	NCBI36
NG_050642.1:g.5731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295417.4:c.51A>G MANE Select	ENSP00000354607.3:p.Leu17=
ENST00000295417.3:c.51A>G	ENSP00000354607.3:p.Leu17=
NM_003468.3:c.51A>G	NP_003459.2:p.Leu17=
XM_024453130.1:c.51A>G	XP_024308898.1:p.Leu17=
NM_003468.4:c.51A>G MANE Select	NP_003459.2:p.Leu17=