LDH info

Canonical Allele Identifier: CA327404
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53891
dbSNP Id: rs397508675

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664835G>T , CM000669.2:g.117664835G>T GRCh38
NC_000007.13:g.117304889G>T , CM000669.1:g.117304889G>T GRCh37
NC_000007.12:g.117092125G>T NCBI36
NG_016465.4:g.204052G>T , LRG_663:g.204052G>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.4111G>T , LRG_663t1:c.4111G>T NP_000483.3:p.Glu1371Ter
XM_011515751.1:c.4201G>T XP_011514053.1:p.Glu1401Ter
XM_011515752.1:c.4201G>T XP_011514054.1:p.Glu1401Ter
XM_011515753.1:c.3868G>T XP_011514055.1:p.Glu1290Ter
XM_011515754.1:c.3868G>T XP_011514056.1:p.Glu1290Ter
ENST00000003084.10:c.4111G>T ENSP00000003084.6:p.Glu1371Ter
ENST00000426809.5:n.4021G>T ENSP00000389119.1:p.Glu1341Ter
ENST00000600166.1:n.237G>T