Canonical Allele Identifier: CA368452082

Gene: MCM7

Linked Data

• dbSNP Id: rs1481354122
• gnomAD v3: 7-100098678-G-A
• gnomAD v4: 7-100098678-G-A
• MyVariant Identifiers: chr7:g.99696301G>A (hg19) ; chr7:g.100098678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098678G>A , CM000669.2:g.100098678G>A	GRCh38
NC_000007.13:g.99696301G>A , CM000669.1:g.99696301G>A	GRCh37
NC_000007.12:g.99534237G>A	NCBI36
NG_016312.1:g.2172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.299C>T	ENSP00000411295.2:p.Pro100Leu
ENST00000485286.6:n.1232C>T
ENST00000489841.6:n.1341C>T
ENST00000710813.1:c.299C>T	ENSP00000518500.1:p.Pro100Leu
ENST00000710814.1:c.299C>T	ENSP00000518501.1:p.Pro100Leu
ENST00000710815.1:c.299C>T	ENSP00000518502.1:p.Pro100Leu
ENST00000303887.10:c.620C>T MANE Select	ENSP00000307288.5:p.Pro207Leu
ENST00000303887.9:c.620C>T	ENSP00000307288.5:p.Pro207Leu
ENST00000343023.10:c.620C>T	ENSP00000344006.6:p.Pro207Leu
ENST00000354230.7:c.92C>T	ENSP00000346171.3:p.Pro31Leu
ENST00000425308.5:c.299C>T	ENSP00000411295.1:p.Pro100Leu
ENST00000463722.5:n.995C>T
ENST00000485286.5:n.1209C>T
ENST00000489841.5:n.771C>T
ENST00000491245.6:c.85+975C>T
ENST00000621318.4:c.92C>T	ENSP00000483795.1:p.Pro31Leu
NM_001278595.1:c.92C>T	NP_001265524.1:p.Pro31Leu
NM_005916.4:c.620C>T	NP_005907.3:p.Pro207Leu
NM_182776.2:c.92C>T	NP_877577.1:p.Pro31Leu
XM_005250348.2:c.299C>T	XP_005250405.1:p.Pro100Leu
XM_005250348.3:c.299C>T	XP_005250405.1:p.Pro100Leu
XM_017012217.2:c.299C>T	XP_016867706.1:p.Pro100Leu
NM_001278595.2:c.92C>T	NP_001265524.1:p.Pro31Leu
NM_005916.5:c.620C>T MANE Select	NP_005907.3:p.Pro207Leu
NM_182776.3:c.92C>T	NP_877577.1:p.Pro31Leu