LDH info

Canonical Allele Identifier: CA328116
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 48674
ClinVar RCV Id: RCV000056383
dbSNP Id: rs121908763

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627640C>G , CM000669.2:g.117627640C>G GRCh38
NC_000007.13:g.117267694C>G , CM000669.1:g.117267694C>G GRCh37
NC_000007.12:g.117054930C>G NCBI36
NG_016465.4:g.166857C>G , LRG_663:g.166857C>G

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3587C>G , LRG_663t1:c.3587C>G NP_000483.3:p.Ser1196Ter
XM_011515751.1:c.3677C>G XP_011514053.1:p.Ser1226Ter
XM_011515752.1:c.3677C>G XP_011514054.1:p.Ser1226Ter
XM_011515753.1:c.3344C>G XP_011514055.1:p.Ser1115Ter
XM_011515754.1:c.3344C>G XP_011514056.1:p.Ser1115Ter
NM_000492.4:c.3587C>G VV MANE Preferred NP_000483.3:p.Ser1196Ter
ENST00000003084.10:c.3587C>G ENSP00000003084.6:p.Ser1196Ter
ENST00000426809.5:n.3497C>G ENSP00000389119.1:p.Ser1166Ter
ENST00000468795.1:n.412C>G