Canonical Allele Identifier: CA368993530

Gene: CFTR

Linked Data

• dbSNP Id: rs1485239084
• gnomAD v3: 7-117614667-G-A
• gnomAD v4: 7-117614667-G-A
• MyVariant Identifiers: chr7:g.117254721G>A (hg19) ; chr7:g.117614667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614667G>A , CM000669.2:g.117614667G>A	GRCh38
NC_000007.13:g.117254721G>A , CM000669.1:g.117254721G>A	GRCh37
NC_000007.12:g.117041957G>A	NCBI36
NG_016465.4:g.153884G>A , LRG_663:g.153884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3422G>A	ENSP00000497673.2:p.Ser1141Asn
ENST00000647978.2:c.*3136G>A	ENSP00000497658.1:n.*3136G>A
ENST00000649781.2:c.3239G>A	ENSP00000497203.1:p.Ser1080Asn
ENST00000685018.2:c.3422G>A	ENSP00000510194.2:p.Ser1141Asn
ENST00000687278.2:c.3422G>A	ENSP00000509593.2:p.Ser1141Asn
ENST00000699585.1:c.3422G>A	ENSP00000514456.1:p.Ser1141Asn
ENST00000699598.1:c.3422G>A	ENSP00000514467.1:p.Ser1141Asn
ENST00000699599.1:c.3422G>A	ENSP00000514468.1:p.Ser1141Asn
ENST00000699600.1:c.3422G>A	ENSP00000514469.1:p.Ser1141Asn
ENST00000699601.1:c.*1797G>A	ENSP00000514470.1:n.*1797G>A
ENST00000699602.1:c.3416G>A	ENSP00000514471.1:p.Ser1139Asn
ENST00000699604.1:c.*3246G>A	ENSP00000514472.1:n.*3246G>A
ENST00000699605.1:c.2996G>A	ENSP00000514473.1:p.Ser999Asn
ENST00000685018.1:c.170G>A	ENSP00000510194.1:p.Ser57Asn
ENST00000687278.1:c.1013G>A	ENSP00000509593.1:p.Ser338Asn
ENST00000689011.1:c.4G>A
ENST00000003084.11:c.3422G>A MANE Select	ENSP00000003084.6:p.Ser1141Asn
ENST00000647720.1:c.1072G>A
ENST00000648260.1:c.2204G>A	ENSP00000497957.1:p.Ser735Asn
ENST00000649406.1:c.3239G>A	ENSP00000497965.1:p.Ser1080Asn
ENST00000649781.1:c.3239G>A	ENSP00000497203.1:p.Ser1080Asn
ENST00000003084.10:c.3422G>A	ENSP00000003084.6:p.Ser1141Asn
ENST00000426809.5:c.3332G>A	ENSP00000389119.1:p.Ser1111Asn
ENST00000468795.1:c.247G>A
NM_000492.3:c.3422G>A , LRG_663t1:c.3422G>A	NP_000483.3:p.Ser1141Asn
XM_011515751.1:c.3512G>A	XP_011514053.1:p.Ser1171Asn
XM_011515752.1:c.3512G>A	XP_011514054.1:p.Ser1171Asn
XM_011515753.1:c.3179G>A	XP_011514055.1:p.Ser1060Asn
XM_011515754.1:c.3179G>A	XP_011514056.1:p.Ser1060Asn
NM_000492.4:c.3422G>A MANE Select	NP_000483.3:p.Ser1141Asn