Canonical Allele Identifier: CA164965162

Gene: CFTR

Linked Data

• dbSNP Id: rs926189289
• MyVariant Identifiers: chr7:g.117250624T>C (hg19) ; chr7:g.117610570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610570T>C , CM000669.2:g.117610570T>C	GRCh38
NC_000007.13:g.117250624T>C , CM000669.1:g.117250624T>C	GRCh37
NC_000007.12:g.117037860T>C	NCBI36
NG_016465.4:g.149787T>C , LRG_663:g.149787T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3040T>C	ENSP00000497673.2:p.Tyr1014His
ENST00000647978.2:c.*2754T>C	ENSP00000497658.1:n.*2754T>C
ENST00000649781.2:c.2857T>C	ENSP00000497203.1:p.Tyr953His
ENST00000685018.2:c.3040T>C	ENSP00000510194.2:p.Tyr1014His
ENST00000687278.2:c.3040T>C	ENSP00000509593.2:p.Tyr1014His
ENST00000699585.1:c.3040T>C	ENSP00000514456.1:p.Tyr1014His
ENST00000699598.1:c.3040T>C	ENSP00000514467.1:p.Tyr1014His
ENST00000699599.1:c.3040T>C	ENSP00000514468.1:p.Tyr1014His
ENST00000699600.1:c.3040T>C	ENSP00000514469.1:p.Tyr1014His
ENST00000699601.1:c.*1340T>C	ENSP00000514470.1:n.*1340T>C
ENST00000699602.1:c.3040T>C	ENSP00000514471.1:p.Tyr1014His
ENST00000699604.1:c.*2864T>C	ENSP00000514472.1:n.*2864T>C
ENST00000699605.1:c.2614T>C	ENSP00000514473.1:p.Tyr872His
ENST00000687278.1:c.631T>C	ENSP00000509593.1:p.Tyr211His
ENST00000003084.11:c.3040T>C MANE Select	ENSP00000003084.6:p.Tyr1014His
ENST00000647720.1:c.690T>C
ENST00000648260.1:c.1822T>C	ENSP00000497957.1:p.Tyr608His
ENST00000649406.1:c.2857T>C	ENSP00000497965.1:p.Tyr953His
ENST00000649781.1:c.2857T>C	ENSP00000497203.1:p.Tyr953His
ENST00000003084.10:c.3040T>C	ENSP00000003084.6:p.Tyr1014His
ENST00000426809.5:c.2950T>C	ENSP00000389119.1:p.Tyr984His
NM_000492.3:c.3040T>C , LRG_663t1:c.3040T>C	NP_000483.3:p.Tyr1014His
XM_011515751.1:c.3130T>C	XP_011514053.1:p.Tyr1044His
XM_011515752.1:c.3130T>C	XP_011514054.1:p.Tyr1044His
XM_011515753.1:c.2797T>C	XP_011514055.1:p.Tyr933His
XM_011515754.1:c.2797T>C	XP_011514056.1:p.Tyr933His
NM_000492.4:c.3040T>C MANE Select	NP_000483.3:p.Tyr1014His