Canonical Allele Identifier: CA1737343611
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797936005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478998C>T , CM000669.2:g.117478998C>T GRCh38
NC_000007.13:g.117119052C>T , CM000669.1:g.117119052C>T GRCh37
NC_000007.12:g.116906288C>T NCBI36
NG_016465.4:g.18215C>T , LRG_663:g.18215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-246C>T ENSP00000417012.1:n.-525-246C>T
ENST00000673785.1:c.-406+13167C>T ENSP00000501235.1:n.-406+13167C>T
ENST00000546407.1:n.166+3190C>T
XM_011515751.1:c.42-246C>T XP_011514053.1:n.42-246C>T
XM_011515752.1:c.42-246C>T XP_011514054.1:n.42-246C>T
XM_011515754.1:c.-1099C>T XP_011514056.1:n.-1099C>T
Search 100 bp 5'
Search 100 bp 3'