Canonical Allele Identifier: CA340881456

Gene: NEXN

Linked Data

• ClinVar Variation Id: 3195769
• ClinVar RCV Id: RCV004489578
• MyVariant Identifiers: chr1:g.78407854G>C (hg19) ; chr1:g.77942169G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942169G>C , CM000663.2:g.77942169G>C	GRCh38
NC_000001.10:g.78407854G>C , CM000663.1:g.78407854G>C	GRCh37
NC_000001.9:g.78180442G>C	NCBI36
NG_016625.1:g.58655G>C , LRG_442:g.58655G>C
NG_033243.2:g.41925C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1620G>C MANE Select	ENSP00000333938.7:p.Met540Ile
ENST00000330010.12:c.1428G>C	ENSP00000327363.8:p.Met476Ile
ENST00000334785.11:c.1620G>C	ENSP00000333938.7:p.Met540Ile
ENST00000342754.5:c.1319G>C
ENST00000470735.1:n.459G>C
ENST00000480732.2:n.1194G>C
NM_001172309.1:c.1428G>C	NP_001165780.1:p.Met476Ile
NM_144573.3:c.1620G>C , LRG_442t1:c.1620G>C	NP_653174.3:p.Met540Ile
XM_005271322.2:c.1620G>C	XP_005271379.1:p.Met540Ile
XM_005271323.2:c.1578G>C	XP_005271380.1:p.Met526Ile
XM_005271324.3:c.1428G>C	XP_005271381.1:p.Met476Ile
XM_005271325.2:c.1398G>C	XP_005271382.1:p.Met466Ile
XM_005271326.2:c.1386G>C	XP_005271383.1:p.Met462Ile
XM_005271327.2:c.1203G>C	XP_005271384.1:p.Met401Ile
XM_005271322.4:c.1620G>C	XP_005271379.1:p.Met540Ile
XM_005271323.4:c.1578G>C	XP_005271380.1:p.Met526Ile
XM_005271324.5:c.1428G>C	XP_005271381.1:p.Met476Ile
XM_005271325.4:c.1398G>C	XP_005271382.1:p.Met466Ile
XM_005271326.4:c.1386G>C	XP_005271383.1:p.Met462Ile
XM_005271327.4:c.1203G>C	XP_005271384.1:p.Met401Ile
NM_001172309.2:c.1428G>C	NP_001165780.1:p.Met476Ile
NM_144573.4:c.1620G>C MANE Select	NP_653174.3:p.Met540Ile