LDH info

Canonical Allele Identifier: CA328129
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54018
dbSNP Id: rs121908802

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117535263C>T , CM000669.2:g.117535263C>T GRCh38
NC_000007.13:g.117175317C>T , CM000669.1:g.117175317C>T GRCh37
NC_000007.12:g.116962553C>T NCBI36
NG_016465.4:g.74480C>T , LRG_663:g.74480C>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.595C>T , LRG_663t1:c.595C>T NP_000483.3:p.His199Tyr
XM_011515751.1:c.685C>T XP_011514053.1:p.His229Tyr
XM_011515752.1:c.685C>T XP_011514054.1:p.His229Tyr
XM_011515753.1:c.352C>T XP_011514055.1:p.His118Tyr
XM_011515754.1:c.352C>T XP_011514056.1:p.His118Tyr
ENST00000003084.10:c.595C>T ENSP00000003084.6:p.His199Tyr
ENST00000426809.5:n.505C>T ENSP00000389119.1:p.His169Tyr