LDH info

Canonical Allele Identifier: CA340642
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7137
dbSNP Id: rs74767530

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627537C>T , CM000669.2:g.117627537C>T GRCh38
NC_000007.13:g.117267591C>T , CM000669.1:g.117267591C>T GRCh37
NC_000007.12:g.117054827C>T NCBI36
NG_016465.4:g.166754C>T , LRG_663:g.166754C>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3484C>T , LRG_663t1:c.3484C>T NP_000483.3:p.Arg1162Ter
XM_011515751.1:c.3574C>T XP_011514053.1:p.Arg1192Ter
XM_011515752.1:c.3574C>T XP_011514054.1:p.Arg1192Ter
XM_011515753.1:c.3241C>T XP_011514055.1:p.Arg1081Ter
XM_011515754.1:c.3241C>T XP_011514056.1:p.Arg1081Ter
ENST00000003084.10:c.3484C>T ENSP00000003084.6:p.Arg1162Ter
ENST00000426809.5:n.3394C>T ENSP00000389119.1:p.Arg1132Ter
ENST00000468795.1:n.309C>T