Canonical Allele Identifier: CA164948299

Gene: CFTR

Linked Data

• dbSNP Id: rs909237349
• gnomAD v3: 7-117479303-T-C
• gnomAD v4: 7-117479303-T-C
• MyVariant Identifiers: chr7:g.117119357T>C (hg19) ; chr7:g.117479303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479303T>C , CM000669.2:g.117479303T>C	GRCh38
NC_000007.13:g.117119357T>C , CM000669.1:g.117119357T>C	GRCh37
NC_000007.12:g.116906593T>C	NCBI36
NG_016465.4:g.18520T>C , LRG_663:g.18520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-466T>C	ENSP00000417012.1:n.-466T>C
ENST00000673785.1:c.-406+13472T>C	ENSP00000501235.1:n.-406+13472T>C
ENST00000546407.1:n.166+3495T>C
XM_011515751.1:c.101T>C	XP_011514053.1:p.Ile34Thr
XM_011515752.1:c.101T>C	XP_011514054.1:p.Ile34Thr
XM_011515754.1:c.-794T>C	XP_011514056.1:n.-794T>C