Canonical Allele Identifier: CA354294276

Gene: ZNF148

Linked Data

• dbSNP Id: rs1179116007
• gnomAD v2: 3-124951661-G-C
• gnomAD v4: 3-125232817-G-C
• MyVariant Identifiers: chr3:g.124951661G>C (hg19) ; chr3:g.125232817G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.125232817G>C , CM000665.2:g.125232817G>C	GRCh38
NC_000003.11:g.124951661G>C , CM000665.1:g.124951661G>C	GRCh37
NC_000003.10:g.126434351G>C	NCBI36
NG_052987.1:g.147538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471196.2:c.1909C>G	ENSP00000420038.2:p.Leu637Val
ENST00000700044.1:c.1909C>G	ENSP00000514760.1:p.Leu637Val
ENST00000360647.9:c.1909C>G MANE Select	ENSP00000353863.4:p.Leu637Val
ENST00000360647.8:c.1909C>G	ENSP00000353863.4:p.Leu637Val
ENST00000468369.5:c.122-163C>G	ENSP00000420102.1:n.122-163C>G
ENST00000484491.5:c.1909C>G	ENSP00000420335.1:p.Leu637Val
ENST00000485866.5:c.1909C>G	ENSP00000420448.1:p.Leu637Val
ENST00000492394.5:c.1909C>G	ENSP00000419322.1:p.Leu637Val
ENST00000496732.1:n.174-163C>G
ENST00000497929.1:n.1905C>G
ENST00000544464.5:c.*542C>G	ENSP00000437916.2:n.*542C>G
NM_021964.2:c.1909C>G	NP_068799.2:p.Leu637Val
NM_001348424.1:c.1909C>G	NP_001335353.1:p.Leu637Val
NM_001348425.2:c.1909C>G	NP_001335354.1:p.Leu637Val
NM_001348426.2:c.1909C>G	NP_001335355.1:p.Leu637Val
NM_001348427.2:c.1909C>G	NP_001335356.1:p.Leu637Val
NM_001348428.2:c.1909C>G	NP_001335357.1:p.Leu637Val
NM_001348429.2:c.1909C>G	NP_001335358.1:p.Leu637Val
NM_001348430.2:c.1909C>G	NP_001335359.1:p.Leu637Val
NM_001348431.2:c.1909C>G	NP_001335360.1:p.Leu637Val
NM_001348432.2:c.1909C>G	NP_001335361.1:p.Leu637Val
NM_001348433.2:c.1909C>G	NP_001335362.1:p.Leu637Val
NM_001348434.2:c.1783C>G	NP_001335363.1:p.Leu595Val
NM_021964.3:c.1909C>G MANE Select	NP_068799.2:p.Leu637Val