Canonical Allele Identifier: CA164948456

Gene: CFTR

Linked Data

• dbSNP Id: rs1031633087
• gnomAD v2: 7-117119599-G-C
• gnomAD v3: 7-117479545-G-C
• gnomAD v4: 7-117479545-G-C
• MyVariant Identifiers: chr7:g.117119599G>C (hg19) ; chr7:g.117479545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479545G>C , CM000669.2:g.117479545G>C	GRCh38
NC_000007.13:g.117119599G>C , CM000669.1:g.117119599G>C	GRCh37
NC_000007.12:g.116906835G>C	NCBI36
NG_016465.4:g.18762G>C , LRG_663:g.18762G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-340G>C	ENSP00000417012.1:n.-340G>C
ENST00000673785.1:c.-406+13714G>C	ENSP00000501235.1:n.-406+13714G>C
ENST00000446805.1:c.-340G>C	ENSP00000417012.1:n.-340G>C
ENST00000546407.1:n.166+3737G>C
XM_011515751.1:c.143+200G>C	XP_011514053.1:n.143+200G>C
XM_011515752.1:c.143+200G>C	XP_011514054.1:n.143+200G>C
XM_011515753.1:c.-340G>C	XP_011514055.1:n.-340G>C
XM_011515754.1:c.-668G>C	XP_011514056.1:n.-668G>C