Canonical Allele Identifier: CA1106300355

Gene: CFTR

Linked Data

• gnomAD v3: 7-117479945-GTA-G
• gnomAD v4: 7-117479945-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479946_117479947del , CM000669.2:g.117479946_117479947del	GRCh38
NC_000007.13:g.117120000_117120001del , CM000669.1:g.117120000_117120001del	GRCh37
NC_000007.12:g.116907236_116907237del	NCBI36
NG_016465.4:g.19163_19164del , LRG_663:g.19163_19164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+252_-191+253del	ENSP00000417012.1:n.-191+252_-191+253del
ENST00000673785.1:c.-406+14115_-406+14116del	ENSP00000501235.1:n.-406+14115_-406+14116del
ENST00000446805.1:c.-191+252_-191+253del	ENSP00000417012.1:n.-191+252_-191+253del
ENST00000546407.1:n.166+4138_166+4139del
XM_011515751.1:c.143+601_143+602del	XP_011514053.1:n.143+601_143+602del
XM_011515752.1:c.143+601_143+602del	XP_011514054.1:n.143+601_143+602del
XM_011515753.1:c.-191+252_-191+253del	XP_011514055.1:n.-191+252_-191+253del
XM_011515754.1:c.-518-202_-518-201del	XP_011514056.1:n.-518-202_-518-201del