Canonical Allele Identifier: CA360264750

Gene: MSH3 DHFR

Linked Data

• ClinVar Variation Id: 1761589
• ClinVar RCV Id: RCV002419162 ; RCV003099811
• MyVariant Identifiers: chr5:g.79950553C>G (hg19) ; chr5:g.80654734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80654734C>G , CM000667.2:g.80654734C>G	GRCh38
NC_000005.9:g.79950553C>G , CM000667.1:g.79950553C>G	GRCh37
NC_000005.8:g.79986309C>G	NCBI36
NG_016607.1:g.5260C>G
NG_023304.1:g.5248G>C
NG_016607.2:g.5260C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265081.7:c.7C>G (MSH3) MANE Select	ENSP00000265081.6:p.Arg3Gly
ENST00000439211.7:c.-245G>C (DHFR) MANE Select	ENSP00000396308.2:n.-245G>C
ENST00000667069.1:c.7C>G (MSH3)	ENSP00000499502.1:p.Arg3Gly
ENST00000670357.1:c.7C>G (MSH3)	ENSP00000499791.1:p.Arg3Gly
ENST00000265081.6:c.7C>G (MSH3)	ENSP00000265081.6:p.Arg3Gly
ENST00000439211.6:c.-245G>C (DHFR)	ENSP00000396308.2:n.-245G>C
NM_000791.3:c.-245G>C (DHFR)	NP_000782.1:n.-245G>C
NM_001290354.1:c.-351G>C (DHFR)	NP_001277283.1:n.-351G>C
NM_001290357.1:c.-245G>C (DHFR)	NP_001277286.1:n.-245G>C
NM_002439.4:c.7C>G (MSH3)	NP_002430.3:p.Arg3Gly
NR_110936.1:n.248G>C (DHFR)
NM_000791.4:c.-245G>C (DHFR) MANE Select	NP_000782.1:n.-245G>C
NM_002439.5:c.7C>G (MSH3) MANE Select	NP_002430.3:p.Arg3Gly
NM_001290354.2:c.-351G>C (DHFR)	NP_001277283.1:n.-351G>C
NM_001290357.2:c.-245G>C (DHFR)	NP_001277286.1:n.-245G>C
NR_110936.2:n.250G>C (DHFR)