Canonical Allele Identifier: CA4373978

Gene: MCM7

Linked Data

• ClinVar Variation Id: 2348096
• ClinVar RCV Id: RCV004184755
• dbSNP Id: rs145784812
• ExAC: 7:99696308 T / C
• gnomAD v2: 7-99696308-T-C
• gnomAD v3: 7-100098685-T-C
• gnomAD v4: 7-100098685-T-C
• MyVariant Identifiers: chr7:g.99696308T>C (hg19) ; chr7:g.100098685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098685T>C , CM000669.2:g.100098685T>C	GRCh38
NC_000007.13:g.99696308T>C , CM000669.1:g.99696308T>C	GRCh37
NC_000007.12:g.99534244T>C	NCBI36
NG_016312.1:g.2179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.292A>G	ENSP00000411295.2:p.Met98Val
ENST00000485286.6:n.1225A>G
ENST00000489841.6:n.1334A>G
ENST00000710813.1:c.292A>G	ENSP00000518500.1:p.Met98Val
ENST00000710814.1:c.292A>G	ENSP00000518501.1:p.Met98Val
ENST00000710815.1:c.292A>G	ENSP00000518502.1:p.Met98Val
ENST00000303887.10:c.613A>G MANE Select	ENSP00000307288.5:p.Met205Val
ENST00000303887.9:c.613A>G	ENSP00000307288.5:p.Met205Val
ENST00000343023.10:c.613A>G	ENSP00000344006.6:p.Met205Val
ENST00000354230.7:c.85A>G	ENSP00000346171.3:p.Met29Val
ENST00000425308.5:c.292A>G	ENSP00000411295.1:p.Met98Val
ENST00000463722.5:n.988A>G
ENST00000485286.5:n.1202A>G
ENST00000489841.5:n.764A>G
ENST00000491245.6:c.85+968A>G
ENST00000621318.4:c.85A>G	ENSP00000483795.1:p.Met29Val
NM_001278595.1:c.85A>G	NP_001265524.1:p.Met29Val
NM_005916.4:c.613A>G	NP_005907.3:p.Met205Val
NM_182776.2:c.85A>G	NP_877577.1:p.Met29Val
XM_005250348.2:c.292A>G	XP_005250405.1:p.Met98Val
XM_005250348.3:c.292A>G	XP_005250405.1:p.Met98Val
XM_017012217.2:c.292A>G	XP_016867706.1:p.Met98Val
NM_001278595.2:c.85A>G	NP_001265524.1:p.Met29Val
NM_005916.5:c.613A>G MANE Select	NP_005907.3:p.Met205Val
NM_182776.3:c.85A>G	NP_877577.1:p.Met29Val