Canonical Allele Identifier: CA1737343985
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479538T= , CM000669.2:g.117479538T= GRCh38
NC_000007.13:g.117119592T= , CM000669.1:g.117119592T= GRCh37
NC_000007.12:g.116906828T= NCBI36
NG_016465.4:g.18755T= , LRG_663:g.18755T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-347T= ENSP00000417012.1:n.-347T=
ENST00000673785.1:c.-406+13707T= ENSP00000501235.1:n.-406+13707T=
ENST00000446805.1:c.-347T= ENSP00000417012.1:n.-347T=
ENST00000546407.1:n.166+3730T=
XM_011515751.1:c.143+193T= XP_011514053.1:n.143+193T=
XM_011515752.1:c.143+193T= XP_011514054.1:n.143+193T=
XM_011515753.1:c.-347T= XP_011514055.1:n.-347T=
XM_011515754.1:c.-675T= XP_011514056.1:n.-675T=