Canonical Allele Identifier: CA24692549

Gene: NEXN

Linked Data

• dbSNP Id: rs1000582238
• gnomAD v3: 1-77943117-G-C
• gnomAD v4: 1-77943117-G-C
• MyVariant Identifiers: chr1:g.78408802G>C (hg19) ; chr1:g.77943117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77943117G>C , CM000663.2:g.77943117G>C	GRCh38
NC_000001.10:g.78408802G>C , CM000663.1:g.78408802G>C	GRCh37
NC_000001.9:g.78181390G>C	NCBI36
NG_016625.1:g.59603G>C , LRG_442:g.59603G>C
NG_033243.2:g.40977C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.*288G>C MANE Select	ENSP00000333938.7:n.*288G>C
ENST00000330010.12:c.*288G>C	ENSP00000327363.8:n.*288G>C
ENST00000334785.11:c.*288G>C	ENSP00000333938.7:n.*288G>C
ENST00000342754.5:c.1934G>C
ENST00000480732.2:n.1890G>C
NM_001172309.1:c.*288G>C	NP_001165780.1:n.*288G>C
NM_144573.3:c.*288G>C , LRG_442t1:c.*288G>C	NP_653174.3:n.*288G>C
XM_005271322.2:c.*204G>C	XP_005271379.1:n.*204G>C
XM_005271323.2:c.*204G>C	XP_005271380.1:n.*204G>C
XM_005271324.3:c.*204G>C	XP_005271381.1:n.*204G>C
XM_005271325.2:c.*204G>C	XP_005271382.1:n.*204G>C
XM_005271326.2:c.*204G>C	XP_005271383.1:n.*204G>C
XM_005271327.2:c.*204G>C	XP_005271384.1:n.*204G>C
XM_005271322.4:c.*204G>C	XP_005271379.1:n.*204G>C
XM_005271323.4:c.*204G>C	XP_005271380.1:n.*204G>C
XM_005271324.5:c.*204G>C	XP_005271381.1:n.*204G>C
XM_005271325.4:c.*204G>C	XP_005271382.1:n.*204G>C
XM_005271326.4:c.*204G>C	XP_005271383.1:n.*204G>C
XM_005271327.4:c.*204G>C	XP_005271384.1:n.*204G>C
NM_001172309.2:c.*288G>C	NP_001165780.1:n.*288G>C
NM_144573.4:c.*288G>C MANE Select	NP_653174.3:n.*288G>C