Canonical Allele Identifier: CA555070888

Gene: ZNF330

Linked Data

• dbSNP Id: rs1413515704
• gnomAD v2: 4-142142758-C-T
• gnomAD v3: 4-141221604-C-T
• gnomAD v4: 4-141221604-C-T
• MyVariant Identifiers: chr4:g.142142758C>T (hg19) ; chr4:g.141221604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.141221604C>T , CM000666.2:g.141221604C>T	GRCh38
NC_000004.11:g.142142758C>T , CM000666.1:g.142142758C>T	GRCh37
NC_000004.10:g.142362208C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262990.9:c.-7+496C>T MANE Select	ENSP00000262990.4:n.-7+496C>T
ENST00000262990.8:c.-7+496C>T	ENSP00000262990.4:n.-7+496C>T
ENST00000503649.5:c.-7+527C>T	ENSP00000422966.1:n.-7+527C>T
ENST00000506302.1:c.-7+496C>T	ENSP00000427201.1:n.-7+496C>T
ENST00000507532.5:c.-7+496C>T	ENSP00000422574.1:n.-7+496C>T
ENST00000512738.5:c.-7+588C>T	ENSP00000422251.1:n.-7+588C>T
ENST00000512809.5:c.-7+550C>T	ENSP00000422599.1:n.-7+550C>T
ENST00000514826.5:n.222+496C>T
ENST00000515453.5:c.-7+496C>T	ENSP00000423217.1:n.-7+496C>T
NM_001292002.1:c.-116+496C>T	NP_001278931.1:n.-116+496C>T
NM_014487.5:c.-7+496C>T	NP_055302.1:n.-7+496C>T
XM_011531875.1:c.-6-762C>T	XP_011530177.1:n.-6-762C>T
XM_017008033.1:c.-6-762C>T	XP_016863522.1:n.-6-762C>T
XM_024453986.1:c.-7+527C>T	XP_024309754.1:n.-7+527C>T
NM_014487.6:c.-7+496C>T MANE Select	NP_055302.1:n.-7+496C>T
NM_001292002.2:c.-116+496C>T	NP_001278931.1:n.-116+496C>T