Canonical Allele Identifier: CA1737343604
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1797935684
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478987C>T , CM000669.2:g.117478987C>T GRCh38
NC_000007.13:g.117119041C>T , CM000669.1:g.117119041C>T GRCh37
NC_000007.12:g.116906277C>T NCBI36
NG_016465.4:g.18204C>T , LRG_663:g.18204C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-257C>T ENSP00000417012.1:n.-525-257C>T
ENST00000673785.1:c.-406+13156C>T ENSP00000501235.1:n.-406+13156C>T
ENST00000546407.1:n.166+3179C>T
XM_011515751.1:c.42-257C>T XP_011514053.1:n.42-257C>T
XM_011515752.1:c.42-257C>T XP_011514054.1:n.42-257C>T
XM_011515754.1:c.-1110C>T XP_011514056.1:n.-1110C>T
Search 100 bp 5'
Search 100 bp 3'