LDH info

Canonical Allele Identifier: CA327138
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53713
ClinVar RCV Id: RCV000046861
dbSNP Id: rs397508536

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611745A>T , CM000669.2:g.117611745A>T GRCh38
NC_000007.13:g.117251799A>T , CM000669.1:g.117251799A>T GRCh37
NC_000007.12:g.117039035A>T NCBI36
NG_016465.4:g.150962A>T , LRG_663:g.150962A>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3304A>T , LRG_663t1:c.3304A>T NP_000483.3:p.Arg1102Ter
XM_011515751.1:c.3394A>T XP_011514053.1:p.Arg1132Ter
XM_011515752.1:c.3394A>T XP_011514054.1:p.Arg1132Ter
XM_011515753.1:c.3061A>T XP_011514055.1:p.Arg1021Ter
XM_011515754.1:c.3061A>T XP_011514056.1:p.Arg1021Ter
ENST00000003084.10:c.3304A>T ENSP00000003084.6:p.Arg1102Ter
ENST00000426809.5:n.3214A>T ENSP00000389119.1:p.Arg1072Ter
ENST00000468795.1:n.129A>T