Canonical Allele Identifier: CA4373977

Gene: MCM7

Linked Data

• dbSNP Id: rs748332749
• ExAC: 7:99696307 A / G
• gnomAD v2: 7-99696307-A-G
• gnomAD v3: 7-100098684-A-G
• gnomAD v4: 7-100098684-A-G
• MyVariant Identifiers: chr7:g.99696307A>G (hg19) ; chr7:g.100098684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100098684A>G , CM000669.2:g.100098684A>G	GRCh38
NC_000007.13:g.99696307A>G , CM000669.1:g.99696307A>G	GRCh37
NC_000007.12:g.99534243A>G	NCBI36
NG_016312.1:g.2178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425308.6:c.293T>C	ENSP00000411295.2:p.Met98Thr
ENST00000485286.6:n.1226T>C
ENST00000489841.6:n.1335T>C
ENST00000710813.1:c.293T>C	ENSP00000518500.1:p.Met98Thr
ENST00000710814.1:c.293T>C	ENSP00000518501.1:p.Met98Thr
ENST00000710815.1:c.293T>C	ENSP00000518502.1:p.Met98Thr
ENST00000303887.10:c.614T>C MANE Select	ENSP00000307288.5:p.Met205Thr
ENST00000303887.9:c.614T>C	ENSP00000307288.5:p.Met205Thr
ENST00000343023.10:c.614T>C	ENSP00000344006.6:p.Met205Thr
ENST00000354230.7:c.86T>C	ENSP00000346171.3:p.Met29Thr
ENST00000425308.5:c.293T>C	ENSP00000411295.1:p.Met98Thr
ENST00000463722.5:n.989T>C
ENST00000485286.5:n.1203T>C
ENST00000489841.5:n.765T>C
ENST00000491245.6:c.85+969T>C
ENST00000621318.4:c.86T>C	ENSP00000483795.1:p.Met29Thr
NM_001278595.1:c.86T>C	NP_001265524.1:p.Met29Thr
NM_005916.4:c.614T>C	NP_005907.3:p.Met205Thr
NM_182776.2:c.86T>C	NP_877577.1:p.Met29Thr
XM_005250348.2:c.293T>C	XP_005250405.1:p.Met98Thr
XM_005250348.3:c.293T>C	XP_005250405.1:p.Met98Thr
XM_017012217.2:c.293T>C	XP_016867706.1:p.Met98Thr
NM_001278595.2:c.86T>C	NP_001265524.1:p.Met29Thr
NM_005916.5:c.614T>C MANE Select	NP_005907.3:p.Met205Thr
NM_182776.3:c.86T>C	NP_877577.1:p.Met29Thr