Canonical Allele Identifier: CA342834
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35823
dbSNP Id: rs139573311

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559471T>C , CM000669.2:g.117559471T>C GRCh38
NC_000007.13:g.117199525T>C , CM000669.1:g.117199525T>C GRCh37
NC_000007.12:g.116986761T>C NCBI36
NG_016465.4:g.98688T>C , LRG_663:g.98688T>C

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1400T>C , LRG_663t1:c.1400T>C NP_000483.3:p.Leu467Pro
XM_011515751.1:c.1490T>C XP_011514053.1:p.Leu497Pro
XM_011515752.1:c.1490T>C XP_011514054.1:p.Leu497Pro
XM_011515753.1:c.1157T>C XP_011514055.1:p.Leu386Pro
XM_011515754.1:c.1157T>C XP_011514056.1:p.Leu386Pro
NR_149084.1:n.221+1262A>G
ENST00000003084.10:c.1400T>C ENSP00000003084.6:p.Leu467Pro
ENST00000426809.5:n.1310T>C ENSP00000389119.1:p.Leu437Pro