Canonical Allele Identifier: CA576711229

Gene: MCM7

Linked Data

• dbSNP Id: rs1159415741
• gnomAD v2: 7-99696154-A-G
• gnomAD v3: 7-100098531-A-G
• gnomAD v4: 7-100098531-A-G
• MyVariant Identifiers: chr7:g.99696154A>G (hg19) ; chr7:g.100098531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098531A>G , CM000669.2:g.100098531A>G	GRCh38
NC_000007.13:g.99696154A>G , CM000669.1:g.99696154A>G	GRCh37
NC_000007.12:g.99534090A>G	NCBI36
NG_016312.1:g.2025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.399+47T>C	ENSP00000411295.2:n.399+47T>C
ENST00000485286.6:n.1332+47T>C
ENST00000489841.6:n.1441+47T>C
ENST00000710813.1:c.399+47T>C	ENSP00000518500.1:n.399+47T>C
ENST00000710814.1:c.399+47T>C	ENSP00000518501.1:n.399+47T>C
ENST00000710815.1:c.399+47T>C	ENSP00000518502.1:n.399+47T>C
ENST00000303887.10:c.720+47T>C MANE Select	ENSP00000307288.5:n.720+47T>C
ENST00000303887.9:c.720+47T>C	ENSP00000307288.5:n.720+47T>C
ENST00000343023.10:c.720+47T>C	ENSP00000344006.6:n.720+47T>C
ENST00000354230.7:c.192+47T>C	ENSP00000346171.3:n.192+47T>C
ENST00000425308.5:c.399+47T>C	ENSP00000411295.1:n.399+47T>C
ENST00000463722.5:n.1095+47T>C
ENST00000485286.5:n.1309+47T>C
ENST00000489841.5:n.871+47T>C
ENST00000491245.6:c.85+1122T>C
ENST00000621318.4:c.192+47T>C	ENSP00000483795.1:n.192+47T>C
NM_001278595.1:c.192+47T>C	NP_001265524.1:n.192+47T>C
NM_005916.4:c.720+47T>C	NP_005907.3:n.720+47T>C
NM_182776.2:c.192+47T>C	NP_877577.1:n.192+47T>C
XM_005250348.2:c.399+47T>C	XP_005250405.1:n.399+47T>C
XM_005250348.3:c.399+47T>C	XP_005250405.1:n.399+47T>C
XM_017012217.2:c.399+47T>C	XP_016867706.1:n.399+47T>C
NM_001278595.2:c.192+47T>C	NP_001265524.1:n.192+47T>C
NM_005916.5:c.720+47T>C MANE Select	NP_005907.3:n.720+47T>C
NM_182776.3:c.192+47T>C	NP_877577.1:n.192+47T>C