Canonical Allele Identifier: CA340879419

Gene: NEXN

Linked Data

• gnomAD v4: 1-77936018-G-C
• MyVariant Identifiers: chr1:g.78401703G>C (hg19) ; chr1:g.77936018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77936018G>C , CM000663.2:g.77936018G>C	GRCh38
NC_000001.10:g.78401703G>C , CM000663.1:g.78401703G>C	GRCh37
NC_000001.9:g.78174291G>C	NCBI36
NG_016625.1:g.52504G>C , LRG_442:g.52504G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1447G>C MANE Select	ENSP00000333938.7:p.Glu483Gln
ENST00000330010.12:c.1255G>C	ENSP00000327363.8:p.Glu419Gln
ENST00000334785.11:c.1447G>C	ENSP00000333938.7:p.Glu483Gln
ENST00000342754.5:c.1146G>C
ENST00000480732.2:n.1021G>C
NM_001172309.1:c.1255G>C	NP_001165780.1:p.Glu419Gln
NM_144573.3:c.1447G>C , LRG_442t1:c.1447G>C	NP_653174.3:p.Glu483Gln
XM_005271322.2:c.1447G>C	XP_005271379.1:p.Glu483Gln
XM_005271323.2:c.1405G>C	XP_005271380.1:p.Glu469Gln
XM_005271324.3:c.1255G>C	XP_005271381.1:p.Glu419Gln
XM_005271325.2:c.1251+2539G>C	XP_005271382.1:n.1251+2539G>C
XM_005271326.2:c.1213G>C	XP_005271383.1:p.Glu405Gln
XM_005271327.2:c.1030G>C	XP_005271384.1:p.Glu344Gln
XM_005271322.4:c.1447G>C	XP_005271379.1:p.Glu483Gln
XM_005271323.4:c.1405G>C	XP_005271380.1:p.Glu469Gln
XM_005271324.5:c.1255G>C	XP_005271381.1:p.Glu419Gln
XM_005271325.4:c.1251+2539G>C	XP_005271382.1:n.1251+2539G>C
XM_005271326.4:c.1213G>C	XP_005271383.1:p.Glu405Gln
XM_005271327.4:c.1030G>C	XP_005271384.1:p.Glu344Gln
NM_001172309.2:c.1255G>C	NP_001165780.1:p.Glu419Gln
NM_144573.4:c.1447G>C MANE Select	NP_653174.3:p.Glu483Gln