Canonical Allele Identifier: CA832112503

Gene: CFTR

Linked Data

• dbSNP Id: rs1358697200
• gnomAD v3: 7-117479485-AAAG-A
• gnomAD v4: 7-117479485-AAAG-A
• MyVariant Identifiers: chr7:g.117119540_117119542del (hg19) ; chr7:g.117479486_117479488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479486_117479488del , CM000669.2:g.117479486_117479488del	GRCh38
NC_000007.13:g.117119540_117119542del , CM000669.1:g.117119540_117119542del	GRCh37
NC_000007.12:g.116906776_116906778del	NCBI36
NG_016465.4:g.18703_18705del , LRG_663:g.18703_18705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-399_-397del	ENSP00000417012.1:n.-399_-397del
ENST00000673785.1:c.-406+13655_-406+13657del	ENSP00000501235.1:n.-406+13655_-406+13657del
ENST00000446805.1:c.-399_-397del	ENSP00000417012.1:n.-399_-397del
ENST00000546407.1:n.166+3678_166+3680del
XM_011515751.1:c.143+141_143+143del	XP_011514053.1:n.143+141_143+143del
XM_011515752.1:c.143+141_143+143del	XP_011514054.1:n.143+141_143+143del
XM_011515753.1:c.-399_-397del	XP_011514055.1:n.-399_-397del
XM_011515754.1:c.-727_-725del	XP_011514056.1:n.-727_-725del