Canonical Allele Identifier: CA164948791

Gene: CFTR

Linked Data

• dbSNP Id: rs925915090
• gnomAD v3: 7-117480019-C-T
• gnomAD v4: 7-117480019-C-T
• MyVariant Identifiers: chr7:g.117120073C>T (hg19) ; chr7:g.117480019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480019C>T , CM000669.2:g.117480019C>T	GRCh38
NC_000007.13:g.117120073C>T , CM000669.1:g.117120073C>T	GRCh37
NC_000007.12:g.116907309C>T	NCBI36
NG_016465.4:g.19236C>T , LRG_663:g.19236C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.-76C>T	ENSP00000497673.2:n.-76C>T
ENST00000647978.2:c.-76C>T	ENSP00000497658.1:n.-76C>T
ENST00000649781.2:c.-76C>T	ENSP00000497203.1:n.-76C>T
ENST00000649850.2:c.-76C>T	ENSP00000514457.1:n.-76C>T
ENST00000685018.2:c.-76C>T	ENSP00000510194.2:n.-76C>T
ENST00000687278.2:c.-76C>T	ENSP00000509593.2:n.-76C>T
ENST00000692802.2:n.9C>T
ENST00000693465.2:n.10C>T
ENST00000693480.2:n.9C>T
ENST00000699585.1:c.-76C>T	ENSP00000514456.1:n.-76C>T
ENST00000699596.1:c.-76C>T	ENSP00000514465.1:n.-76C>T
ENST00000699597.1:c.-76C>T	ENSP00000514466.1:n.-76C>T
ENST00000699598.1:c.-76C>T	ENSP00000514467.1:n.-76C>T
ENST00000699599.1:c.-76C>T	ENSP00000514468.1:n.-76C>T
ENST00000699600.1:c.-76C>T	ENSP00000514469.1:n.-76C>T
ENST00000699601.1:c.-76C>T	ENSP00000514470.1:n.-76C>T
ENST00000699602.1:c.-76C>T	ENSP00000514471.1:n.-76C>T
ENST00000699603.1:n.9C>T
ENST00000699604.1:c.-76C>T	ENSP00000514472.1:n.-76C>T
ENST00000446805.2:c.-191+325C>T	ENSP00000417012.1:n.-191+325C>T
ENST00000647639.1:n.9C>T
ENST00000647978.1:c.-76C>T	ENSP00000497658.1:n.-76C>T
ENST00000648260.1:c.-76C>T	ENSP00000497957.1:n.-76C>T
ENST00000649406.1:c.-76C>T	ENSP00000497965.1:n.-76C>T
ENST00000649850.1:n.8C>T
ENST00000673785.1:c.-406+14188C>T	ENSP00000501235.1:n.-406+14188C>T
ENST00000003084.10:c.-76C>T	ENSP00000003084.6:n.-76C>T
ENST00000446805.1:c.-191+325C>T	ENSP00000417012.1:n.-191+325C>T
ENST00000546407.1:n.166+4211C>T
NM_000492.3:c.-76C>T , LRG_663t1:c.-76C>T	NP_000483.3:n.-76C>T
XM_011515751.1:c.143+674C>T	XP_011514053.1:n.143+674C>T
XM_011515752.1:c.143+674C>T	XP_011514054.1:n.143+674C>T
XM_011515753.1:c.-191+325C>T	XP_011514055.1:n.-191+325C>T
XM_011515754.1:c.-518-129C>T	XP_011514056.1:n.-518-129C>T