Canonical Allele Identifier: CA164948757

Gene: CFTR

Linked Data

• dbSNP Id: rs534467396
• MyVariant Identifiers: chr7:g.117120044G>C (hg19) ; chr7:g.117479990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479990G>C , CM000669.2:g.117479990G>C	GRCh38
NC_000007.13:g.117120044G>C , CM000669.1:g.117120044G>C	GRCh37
NC_000007.12:g.116907280G>C	NCBI36
NG_016465.4:g.19207G>C , LRG_663:g.19207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.-105G>C	ENSP00000497673.2:n.-105G>C
ENST00000685018.2:c.-105G>C	ENSP00000510194.2:n.-105G>C
ENST00000687278.2:c.-105G>C	ENSP00000509593.2:n.-105G>C
ENST00000699585.1:c.-105G>C	ENSP00000514456.1:n.-105G>C
ENST00000699596.1:c.-105G>C	ENSP00000514465.1:n.-105G>C
ENST00000699597.1:c.-105G>C	ENSP00000514466.1:n.-105G>C
ENST00000699598.1:c.-105G>C	ENSP00000514467.1:n.-105G>C
ENST00000699599.1:c.-105G>C	ENSP00000514468.1:n.-105G>C
ENST00000699600.1:c.-105G>C	ENSP00000514469.1:n.-105G>C
ENST00000699601.1:c.-105G>C	ENSP00000514470.1:n.-105G>C
ENST00000699602.1:c.-105G>C	ENSP00000514471.1:n.-105G>C
ENST00000446805.2:c.-191+296G>C	ENSP00000417012.1:n.-191+296G>C
ENST00000673785.1:c.-406+14159G>C	ENSP00000501235.1:n.-406+14159G>C
ENST00000003084.10:c.-105G>C	ENSP00000003084.6:n.-105G>C
ENST00000446805.1:c.-191+296G>C	ENSP00000417012.1:n.-191+296G>C
ENST00000546407.1:n.166+4182G>C
NM_000492.3:c.-105G>C , LRG_663t1:c.-105G>C	NP_000483.3:n.-105G>C
XM_011515751.1:c.143+645G>C	XP_011514053.1:n.143+645G>C
XM_011515752.1:c.143+645G>C	XP_011514054.1:n.143+645G>C
XM_011515753.1:c.-191+296G>C	XP_011514055.1:n.-191+296G>C
XM_011515754.1:c.-518-158G>C	XP_011514056.1:n.-518-158G>C