Canonical Allele Identifier: CA2740097512

Gene: CFTR

Linked Data

• ClinVar Variation Id: 3061385
• ClinVar RCV Id: RCV003983393

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479742G>C , CM000669.2:g.117479742G>C	GRCh38
NC_000007.13:g.117119796G>C , CM000669.1:g.117119796G>C	GRCh37
NC_000007.12:g.116907032G>C	NCBI36
NG_016465.4:g.18959G>C , LRG_663:g.18959G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+48G>C	ENSP00000417012.1:n.-191+48G>C
ENST00000673785.1:c.-406+13911G>C	ENSP00000501235.1:n.-406+13911G>C
ENST00000446805.1:c.-191+48G>C	ENSP00000417012.1:n.-191+48G>C
ENST00000546407.1:n.166+3934G>C
XM_011515751.1:c.143+397G>C	XP_011514053.1:n.143+397G>C
XM_011515752.1:c.143+397G>C	XP_011514054.1:n.143+397G>C
XM_011515753.1:c.-191+48G>C	XP_011514055.1:n.-191+48G>C
XM_011515754.1:c.-519+48G>C	XP_011514056.1:n.-519+48G>C