LDH info

Canonical Allele Identifier: CA325580
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7192
dbSNP Id: rs121909041

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642483T>C , CM000669.2:g.117642483T>C GRCh38
NC_000007.13:g.117282537T>C , CM000669.1:g.117282537T>C GRCh37
NC_000007.12:g.117069773T>C NCBI36
NG_016465.4:g.181700T>C , LRG_663:g.181700T>C

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3763T>C , LRG_663t1:c.3763T>C NP_000483.3:p.Ser1255Pro
XM_011515751.1:c.3853T>C XP_011514053.1:p.Ser1285Pro
XM_011515752.1:c.3853T>C XP_011514054.1:p.Ser1285Pro
XM_011515753.1:c.3520T>C XP_011514055.1:p.Ser1174Pro
XM_011515754.1:c.3520T>C XP_011514056.1:p.Ser1174Pro
NM_000492.4:c.3763T>C VV MANE Preferred NP_000483.3:p.Ser1255Pro
ENST00000003084.10:c.3763T>C ENSP00000003084.6:p.Ser1255Pro
ENST00000426809.5:n.3673T>C ENSP00000389119.1:p.Ser1225Pro