Canonical Allele Identifier: CA340642
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7137
dbSNP Id: rs74767530

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627537C>T , CM000669.2:g.117627537C>T GRCh38
NC_000007.13:g.117267591C>T , CM000669.1:g.117267591C>T GRCh37
NC_000007.12:g.117054827C>T NCBI36
NG_016465.4:g.166754C>T , LRG_663:g.166754C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.3484C>T MANE Select ENSP00000003084.6:p.Arg1162Ter
ENST00000648260.1:c.2266C>T ENSP00000497957.1:p.Arg756Ter
ENST00000649406.1:c.3301C>T ENSP00000497965.1:p.Arg1101Ter
ENST00000649781.1:n.3301C>T ENSP00000497203.1:p.Arg1101Ter
ENST00000003084.10:c.3484C>T ENSP00000003084.6:p.Arg1162Ter
ENST00000426809.5:n.3394C>T ENSP00000389119.1:p.Arg1132Ter
NM_000492.3:c.3484C>T , LRG_663t1:c.3484C>T NP_000483.3:p.Arg1162Ter
XM_011515751.1:c.3574C>T XP_011514053.1:p.Arg1192Ter
XM_011515752.1:c.3574C>T XP_011514054.1:p.Arg1192Ter
XM_011515753.1:c.3241C>T XP_011514055.1:p.Arg1081Ter
XM_011515754.1:c.3241C>T XP_011514056.1:p.Arg1081Ter
NM_000492.4:c.3484C>T MANE Select NP_000483.3:p.Arg1162Ter