Canonical Allele Identifier: CA832112096

Gene: CFTR

Linked Data

• dbSNP Id: rs1256985443
• MyVariant Identifiers: chr7:g.117118734T>C (hg19) ; chr7:g.117478680T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478680T>C , CM000669.2:g.117478680T>C	GRCh38
NC_000007.13:g.117118734T>C , CM000669.1:g.117118734T>C	GRCh37
NC_000007.12:g.116905970T>C	NCBI36
NG_016465.4:g.17897T>C , LRG_663:g.17897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+258T>C	ENSP00000417012.1:n.-526+258T>C
ENST00000673785.1:c.-406+12849T>C	ENSP00000501235.1:n.-406+12849T>C
ENST00000546407.1:n.166+2872T>C
XM_011515751.1:c.41+258T>C	XP_011514053.1:n.41+258T>C
XM_011515752.1:c.41+258T>C	XP_011514054.1:n.41+258T>C