Canonical Allele Identifier: CA40354922

Gene: WDR64

Linked Data

• dbSNP Id: rs542935101
• gnomAD v2: 1-241960709-T-C
• gnomAD v3: 1-241797407-T-C
• gnomAD v4: 1-241797407-T-C
• MyVariant Identifiers: chr1:g.241960709T>C (hg19) ; chr1:g.241797407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241797407T>C , CM000663.2:g.241797407T>C	GRCh38
NC_000001.10:g.241960709T>C , CM000663.1:g.241960709T>C	GRCh37
NC_000001.9:g.240027332T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000425826.3:c.*1423+1037T>C	ENSP00000406342.3:n.*1423+1037T>C
ENST00000437684.7:c.3192+1037T>C MANE Select	ENSP00000402446.4:n.3192+1037T>C
ENST00000366552.6:c.3162+1037T>C	ENSP00000355510.2:n.3162+1037T>C
ENST00000414635.5:c.1974+1037T>C	ENSP00000406656.1:n.1974+1037T>C
ENST00000425826.2:c.1598+1037T>C
ENST00000437684.6:c.1825+1033T>C	ENSP00000402446.3:n.1825+1033T>C
NM_144625.4:c.3162+1037T>C	NP_653226.4:n.3162+1037T>C
XM_006711736.2:c.3192+1037T>C	XP_006711799.1:n.3192+1037T>C
XM_011544084.1:c.2709+1037T>C	XP_011542386.1:n.2709+1037T>C
XM_011544085.1:c.2709+1037T>C	XP_011542387.1:n.2709+1037T>C
XM_011544086.1:c.2709+1037T>C	XP_011542388.1:n.2709+1037T>C
XM_011544088.1:c.2253+1037T>C	XP_011542390.1:n.2253+1037T>C
XM_011544089.1:c.2199+1037T>C	XP_011542391.1:n.2199+1037T>C
XM_011544090.1:c.2199+1037T>C	XP_011542392.1:n.2199+1037T>C
XM_006711736.3:c.3192+1037T>C	XP_006711799.1:n.3192+1037T>C
XM_011544086.3:c.2709+1037T>C	XP_011542388.1:n.2709+1037T>C
XM_017000315.1:c.2940+1037T>C	XP_016855804.1:n.2940+1037T>C
NM_001367482.1:c.3192+1037T>C MANE Select	NP_001354411.1:n.3192+1037T>C