Canonical Allele Identifier: CA368451696
Gene: MCM7 HGNC NCBI

Linked Data

dbSNP Id: rs1206127645
gnomAD v2: 7-99696256-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100098633A>C , CM000669.2:g.100098633A>C GRCh38
NC_000007.13:g.99696256A>C , CM000669.1:g.99696256A>C GRCh37
NC_000007.12:g.99534192A>C NCBI36
NG_016312.1:g.2127A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000425308.6:c.344T>G ENSP00000411295.2:p.Leu115Arg
ENST00000485286.6:n.1277T>G
ENST00000489841.6:n.1386T>G
ENST00000710813.1:c.344T>G ENSP00000518500.1:p.Leu115Arg
ENST00000710814.1:c.344T>G ENSP00000518501.1:p.Leu115Arg
ENST00000710815.1:c.344T>G ENSP00000518502.1:p.Leu115Arg
ENST00000303887.10:c.665T>G MANE Select ENSP00000307288.5:p.Leu222Arg
ENST00000303887.9:c.665T>G ENSP00000307288.5:p.Leu222Arg
ENST00000343023.10:c.665T>G ENSP00000344006.6:p.Leu222Arg
ENST00000354230.7:c.137T>G ENSP00000346171.3:p.Leu46Arg
ENST00000425308.5:c.344T>G ENSP00000411295.1:p.Leu115Arg
ENST00000463722.5:n.1040T>G
ENST00000485286.5:n.1254T>G
ENST00000489841.5:n.816T>G
ENST00000491245.6:c.85+1020T>G
ENST00000621318.4:c.137T>G ENSP00000483795.1:p.Leu46Arg
NM_001278595.1:c.137T>G NP_001265524.1:p.Leu46Arg
NM_005916.4:c.665T>G NP_005907.3:p.Leu222Arg
NM_182776.2:c.137T>G NP_877577.1:p.Leu46Arg
XM_005250348.2:c.344T>G XP_005250405.1:p.Leu115Arg
XM_005250348.3:c.344T>G XP_005250405.1:p.Leu115Arg
XM_017012217.2:c.344T>G XP_016867706.1:p.Leu115Arg
NM_001278595.2:c.137T>G NP_001265524.1:p.Leu46Arg
NM_005916.5:c.665T>G MANE Select NP_005907.3:p.Leu222Arg
NM_182776.3:c.137T>G NP_877577.1:p.Leu46Arg