Canonical Allele Identifier: CA368974982

Gene: CFTR

Linked Data

• ClinVar Variation Id: 637971
• ClinVar RCV Id: RCV000790436
• dbSNP Id: rs1403470018
• gnomAD v4: 7-117531081-G-A
• COSMIC: COSM4635465
• MyVariant Identifiers: chr7:g.117171135G>A (hg19) ; chr7:g.117531081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117531081G>A , CM000669.2:g.117531081G>A	GRCh38
NC_000007.13:g.117171135G>A , CM000669.1:g.117171135G>A	GRCh37
NC_000007.12:g.116958371G>A	NCBI36
NG_016465.4:g.70298G>A , LRG_663:g.70298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.456G>A	ENSP00000497673.2:p.Met152Ile
ENST00000647978.2:c.*353G>A	ENSP00000497658.1:n.*353G>A
ENST00000649781.2:c.456G>A	ENSP00000497203.1:p.Met152Ile
ENST00000685018.2:c.456G>A	ENSP00000510194.2:p.Met152Ile
ENST00000687278.2:c.456G>A	ENSP00000509593.2:p.Met152Ile
ENST00000699585.1:c.456G>A	ENSP00000514456.1:p.Met152Ile
ENST00000699596.1:c.456G>A	ENSP00000514465.1:p.Met152Ile
ENST00000699597.1:c.456G>A	ENSP00000514466.1:p.Met152Ile
ENST00000699598.1:c.456G>A	ENSP00000514467.1:p.Met152Ile
ENST00000699599.1:c.456G>A	ENSP00000514468.1:p.Met152Ile
ENST00000699600.1:c.456G>A	ENSP00000514469.1:p.Met152Ile
ENST00000699601.1:c.456G>A	ENSP00000514470.1:p.Met152Ile
ENST00000699602.1:c.456G>A	ENSP00000514471.1:p.Met152Ile
ENST00000699604.1:c.*280G>A	ENSP00000514472.1:n.*280G>A
ENST00000699605.1:c.213G>A	ENSP00000514473.1:p.Met71Ile
ENST00000003084.11:c.456G>A MANE Select	ENSP00000003084.6:p.Met152Ile
ENST00000647978.1:c.*353G>A	ENSP00000497658.1:n.*353G>A
ENST00000648260.1:c.456G>A	ENSP00000497957.1:p.Met152Ile
ENST00000649406.1:c.456G>A	ENSP00000497965.1:p.Met152Ile
ENST00000649781.1:c.456G>A	ENSP00000497203.1:p.Met152Ile
ENST00000673785.1:c.213G>A	ENSP00000501235.1:p.Met71Ile
ENST00000003084.10:c.456G>A	ENSP00000003084.6:p.Met152Ile
ENST00000426809.5:c.456G>A	ENSP00000389119.1:p.Met152Ile
NM_000492.3:c.456G>A , LRG_663t1:c.456G>A	NP_000483.3:p.Met152Ile
XM_011515751.1:c.546G>A	XP_011514053.1:p.Met182Ile
XM_011515752.1:c.546G>A	XP_011514054.1:p.Met182Ile
XM_011515753.1:c.213G>A	XP_011514055.1:p.Met71Ile
XM_011515754.1:c.213G>A	XP_011514056.1:p.Met71Ile
NM_000492.4:c.456G>A MANE Select	NP_000483.3:p.Met152Ile