Canonical Allele Identifier: CA24692011

Gene: NEXN

Linked Data

• dbSNP Id: rs956607391
• gnomAD v4: 1-77942763-T-C
• MyVariant Identifiers: chr1:g.78408448T>C (hg19) ; chr1:g.77942763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942763T>C , CM000663.2:g.77942763T>C	GRCh38
NC_000001.10:g.78408448T>C , CM000663.1:g.78408448T>C	GRCh37
NC_000001.9:g.78181036T>C	NCBI36
NG_016625.1:g.59249T>C , LRG_442:g.59249T>C
NG_033243.2:g.41331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1962T>C MANE Select	ENSP00000333938.7:p.Cys654=
ENST00000330010.12:c.1770T>C	ENSP00000327363.8:p.Cys590=
ENST00000334785.11:c.1962T>C	ENSP00000333938.7:p.Cys654=
ENST00000342754.5:c.1661T>C
ENST00000480732.2:n.1536T>C
NM_001172309.1:c.1770T>C	NP_001165780.1:p.Cys590=
NM_144573.3:c.1962T>C , LRG_442t1:c.1962T>C	NP_653174.3:p.Cys654=
XM_005271322.2:c.1962T>C	XP_005271379.1:p.Cys654=
XM_005271323.2:c.1920T>C	XP_005271380.1:p.Cys640=
XM_005271324.3:c.1770T>C	XP_005271381.1:p.Cys590=
XM_005271325.2:c.1740T>C	XP_005271382.1:p.Cys580=
XM_005271326.2:c.1728T>C	XP_005271383.1:p.Cys576=
XM_005271327.2:c.1545T>C	XP_005271384.1:p.Cys515=
XM_005271322.4:c.1962T>C	XP_005271379.1:p.Cys654=
XM_005271323.4:c.1920T>C	XP_005271380.1:p.Cys640=
XM_005271324.5:c.1770T>C	XP_005271381.1:p.Cys590=
XM_005271325.4:c.1740T>C	XP_005271382.1:p.Cys580=
XM_005271326.4:c.1728T>C	XP_005271383.1:p.Cys576=
XM_005271327.4:c.1545T>C	XP_005271384.1:p.Cys515=
NM_001172309.2:c.1770T>C	NP_001165780.1:p.Cys590=
NM_144573.4:c.1962T>C MANE Select	NP_653174.3:p.Cys654=