Canonical Allele Identifier: CA164948268

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1330022
• ClinVar RCV Id: RCV001801039
• dbSNP Id: rs1030962741
• gnomAD v2: 7-117119321-C-T
• gnomAD v3: 7-117479267-C-T
• gnomAD v4: 7-117479267-C-T
• MyVariant Identifiers: chr7:g.117119321C>T (hg19) ; chr7:g.117479267C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479267C>T , CM000669.2:g.117479267C>T	GRCh38
NC_000007.13:g.117119321C>T , CM000669.1:g.117119321C>T	GRCh37
NC_000007.12:g.116906557C>T	NCBI36
NG_016465.4:g.18484C>T , LRG_663:g.18484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-502C>T	ENSP00000417012.1:n.-502C>T
ENST00000673785.1:c.-406+13436C>T	ENSP00000501235.1:n.-406+13436C>T
ENST00000546407.1:n.166+3459C>T
XM_011515751.1:c.65C>T	XP_011514053.1:p.Pro22Leu
XM_011515752.1:c.65C>T	XP_011514054.1:p.Pro22Leu
XM_011515754.1:c.-830C>T	XP_011514056.1:n.-830C>T