Canonical Allele Identifier: CA2715498558
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs2116601716
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478997G>T , CM000669.2:g.117478997G>T GRCh38
NC_000007.13:g.117119051G>T , CM000669.1:g.117119051G>T GRCh37
NC_000007.12:g.116906287G>T NCBI36
NG_016465.4:g.18214G>T , LRG_663:g.18214G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-247G>T ENSP00000417012.1:n.-525-247G>T
ENST00000673785.1:c.-406+13166G>T ENSP00000501235.1:n.-406+13166G>T
ENST00000546407.1:n.166+3189G>T
XM_011515751.1:c.42-247G>T XP_011514053.1:n.42-247G>T
XM_011515752.1:c.42-247G>T XP_011514054.1:n.42-247G>T
XM_011515754.1:c.-1100G>T XP_011514056.1:n.-1100G>T
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