Canonical Allele Identifier: CA368975529

Gene: CFTR

Linked Data

• dbSNP Id: rs397508617
• gnomAD v2: 7-117282628-C-A
• MyVariant Identifiers: chr7:g.117282628C>A (hg19) ; chr7:g.117642574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642574C>A , CM000669.2:g.117642574C>A	GRCh38
NC_000007.13:g.117282628C>A , CM000669.1:g.117282628C>A	GRCh37
NC_000007.12:g.117069864C>A	NCBI36
NG_016465.4:g.181791C>A , LRG_663:g.181791C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*63C>A	ENSP00000497673.2:n.*63C>A
ENST00000647978.2:c.*3568C>A	ENSP00000497658.1:n.*3568C>A
ENST00000649781.2:c.3671C>A	ENSP00000497203.1:p.Ala1224Asp
ENST00000685018.2:c.3854C>A	ENSP00000510194.2:p.Ala1285Asp
ENST00000687278.2:c.*507C>A	ENSP00000509593.2:n.*507C>A
ENST00000699585.1:c.*63C>A	ENSP00000514456.1:n.*63C>A
ENST00000699598.1:c.3854C>A	ENSP00000514467.1:p.Ala1285Asp
ENST00000699599.1:c.3854C>A	ENSP00000514468.1:p.Ala1285Asp
ENST00000699600.1:c.*515C>A	ENSP00000514469.1:n.*515C>A
ENST00000699601.1:c.*2229C>A	ENSP00000514470.1:n.*2229C>A
ENST00000699602.1:c.3848C>A	ENSP00000514471.1:p.Ala1283Asp
ENST00000699604.1:c.*3678C>A	ENSP00000514472.1:n.*3678C>A
ENST00000699605.1:c.3428C>A	ENSP00000514473.1:p.Ala1143Asp
ENST00000685018.1:c.602C>A	ENSP00000510194.1:p.Ala201Asp
ENST00000687278.1:c.1641C>A	ENSP00000509593.1:n.1641C>A
ENST00000689011.1:c.436C>A
ENST00000003084.11:c.3854C>A MANE Select	ENSP00000003084.6:p.Ala1285Asp
ENST00000647720.1:c.1304C>A
ENST00000649781.1:c.3671C>A	ENSP00000497203.1:p.Ala1224Asp
ENST00000003084.10:c.3854C>A	ENSP00000003084.6:p.Ala1285Asp
ENST00000426809.5:c.3764C>A	ENSP00000389119.1:p.Ala1255Asp
NM_000492.3:c.3854C>A , LRG_663t1:c.3854C>A	NP_000483.3:p.Ala1285Asp
XM_011515751.1:c.3944C>A	XP_011514053.1:p.Ala1315Asp
XM_011515752.1:c.3944C>A	XP_011514054.1:p.Ala1315Asp
XM_011515753.1:c.3611C>A	XP_011514055.1:p.Ala1204Asp
XM_011515754.1:c.3611C>A	XP_011514056.1:p.Ala1204Asp
NM_000492.4:c.3854C>A MANE Select	NP_000483.3:p.Ala1285Asp