LDH info

Canonical Allele Identifier: CA328130
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54026
dbSNP Id: rs121908803
COSMIC: COSM137489

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117535281C>T , CM000669.2:g.117535281C>T GRCh38
NC_000007.13:g.117175335C>T , CM000669.1:g.117175335C>T GRCh37
NC_000007.12:g.116962571C>T NCBI36
NG_016465.4:g.74498C>T , LRG_663:g.74498C>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.613C>T , LRG_663t1:c.613C>T NP_000483.3:p.Pro205Ser
XM_011515751.1:c.703C>T XP_011514053.1:p.Pro235Ser
XM_011515752.1:c.703C>T XP_011514054.1:p.Pro235Ser
XM_011515753.1:c.370C>T XP_011514055.1:p.Pro124Ser
XM_011515754.1:c.370C>T XP_011514056.1:p.Pro124Ser
NM_000492.4:c.613C>T VV MANE Preferred NP_000483.3:p.Pro205Ser
ENST00000003084.10:c.613C>T ENSP00000003084.6:p.Pro205Ser
ENST00000426809.5:n.523C>T ENSP00000389119.1:p.Pro175Ser