Canonical Allele Identifier: CA340644
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7139
dbSNP Id: rs121909011

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540230C>T , CM000669.2:g.117540230C>T GRCh38
NC_000007.13:g.117180284C>T , CM000669.1:g.117180284C>T GRCh37
NC_000007.12:g.116967520C>T NCBI36
NG_016465.4:g.79447C>T , LRG_663:g.79447C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1000C>T MANE Select ENSP00000003084.6:p.Arg334Trp
ENST00000647978.1:c.*897C>T ENSP00000497658.1:p.=
ENST00000648260.1:c.1000C>T ENSP00000497957.1:p.Arg334Trp
ENST00000649406.1:c.1000C>T ENSP00000497965.1:p.Arg334Trp
ENST00000649781.1:n.1000C>T ENSP00000497203.1:p.Arg334Trp
ENST00000673785.1:c.757C>T ENSP00000501235.1:p.Arg253Trp
ENST00000003084.10:c.1000C>T ENSP00000003084.6:p.Arg334Trp
ENST00000426809.5:n.910C>T ENSP00000389119.1:p.Arg304Trp
NM_000492.3:c.1000C>T , LRG_663t1:c.1000C>T NP_000483.3:p.Arg334Trp
XM_011515751.1:c.1090C>T XP_011514053.1:p.Arg364Trp
XM_011515752.1:c.1090C>T XP_011514054.1:p.Arg364Trp
XM_011515753.1:c.757C>T XP_011514055.1:p.Arg253Trp
XM_011515754.1:c.757C>T XP_011514056.1:p.Arg253Trp
NM_000492.4:c.1000C>T MANE Select NP_000483.3:p.Arg334Trp