Canonical Allele Identifier: CA4742650

Gene: MCM4

Linked Data

• ClinVar Variation Id: 363233
• ClinVar RCV Id: RCV000340563 ; RCV000881050
• dbSNP Id: rs765660789
• ExAC: 8:48883205 G / A
• gnomAD v2: 8-48883205-G-A
• gnomAD v3: 8-47970645-G-A
• gnomAD v4: 8-47970645-G-A
• MyVariant Identifiers: chr8:g.48883205G>A (hg19) ; chr8:g.47970645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47970645G>A , CM000670.2:g.47970645G>A	GRCh38
NC_000008.10:g.48883205G>A , CM000670.1:g.48883205G>A	GRCh37
NC_000008.9:g.49045758G>A	NCBI36
NG_032967.1:g.15443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519470.2:n.1302G>A
ENST00000697120.1:n.1664G>A
ENST00000697121.1:n.1742G>A
ENST00000697122.1:c.1174+3160G>A	ENSP00000513122.1:n.1174+3160G>A
ENST00000697123.1:n.1651G>A
ENST00000520637.2:c.726G>A	ENSP00000427875.2:p.Val242=
ENST00000647877.1:c.368-2212G>A
ENST00000648407.1:c.1569G>A	ENSP00000497881.1:p.Val523=
ENST00000648519.1:c.*1298G>A	ENSP00000497176.1:n.*1298G>A
ENST00000648554.1:c.252G>A	ENSP00000496985.1:p.Val84=
ENST00000649838.1:c.1692G>A	ENSP00000497648.1:p.Val564=
ENST00000649919.1:c.1419G>A	ENSP00000498202.1:p.Val473=
ENST00000649973.1:c.1569G>A MANE Select	ENSP00000496964.1:p.Val523=
ENST00000650216.1:c.1227G>A	ENSP00000497093.1:p.Val409=
ENST00000650327.1:n.36-2212G>A
ENST00000262105.6:c.1569G>A	ENSP00000262105.2:p.Val523=
ENST00000517709.1:n.507G>A
ENST00000518680.1:n.772G>A
ENST00000519470.1:n.137G>A
ENST00000520637.1:c.723G>A	ENSP00000427875.1:p.Val241=
ENST00000523944.5:c.1569G>A	ENSP00000430194.1:p.Val523=
NM_005914.3:c.1569G>A	NP_005905.2:p.Val523=
NM_182746.2:c.1569G>A	NP_877423.1:p.Val523=
XM_005251234.1:c.1419G>A	XP_005251291.1:p.Val473=
NM_005914.4:c.1569G>A	NP_005905.2:p.Val523=
NM_182746.3:c.1569G>A MANE Select	NP_877423.1:p.Val523=