Canonical Allele Identifier: CA368452250

Gene: MCM7

Linked Data

• dbSNP Id: rs1369285286
• gnomAD v2: 7-99696318-C-T
• gnomAD v4: 7-100098695-C-T
• MyVariant Identifiers: chr7:g.99696318C>T (hg19) ; chr7:g.100098695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098695C>T , CM000669.2:g.100098695C>T	GRCh38
NC_000007.13:g.99696318C>T , CM000669.1:g.99696318C>T	GRCh37
NC_000007.12:g.99534254C>T	NCBI36
NG_016312.1:g.2189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.282G>A	ENSP00000411295.2:p.Met94Ile
ENST00000485286.6:n.1215G>A
ENST00000489841.6:n.1324G>A
ENST00000710813.1:c.282G>A	ENSP00000518500.1:p.Met94Ile
ENST00000710814.1:c.282G>A	ENSP00000518501.1:p.Met94Ile
ENST00000710815.1:c.282G>A	ENSP00000518502.1:p.Met94Ile
ENST00000303887.10:c.603G>A MANE Select	ENSP00000307288.5:p.Met201Ile
ENST00000303887.9:c.603G>A	ENSP00000307288.5:p.Met201Ile
ENST00000343023.10:c.603G>A	ENSP00000344006.6:p.Met201Ile
ENST00000354230.7:c.75G>A	ENSP00000346171.3:p.Met25Ile
ENST00000425308.5:c.282G>A	ENSP00000411295.1:p.Met94Ile
ENST00000463722.5:n.978G>A
ENST00000485286.5:n.1192G>A
ENST00000489841.5:n.754G>A
ENST00000491245.6:c.85+958G>A
ENST00000621318.4:c.75G>A	ENSP00000483795.1:p.Met25Ile
NM_001278595.1:c.75G>A	NP_001265524.1:p.Met25Ile
NM_005916.4:c.603G>A	NP_005907.3:p.Met201Ile
NM_182776.2:c.75G>A	NP_877577.1:p.Met25Ile
XM_005250348.2:c.282G>A	XP_005250405.1:p.Met94Ile
XM_005250348.3:c.282G>A	XP_005250405.1:p.Met94Ile
XM_017012217.2:c.282G>A	XP_016867706.1:p.Met94Ile
NM_001278595.2:c.75G>A	NP_001265524.1:p.Met25Ile
NM_005916.5:c.603G>A MANE Select	NP_005907.3:p.Met201Ile
NM_182776.3:c.75G>A	NP_877577.1:p.Met25Ile