Canonical Allele Identifier: CA454979353

Gene: EGFR

Linked Data

• gnomAD v4: 7-55174751-T-A
• MyVariant Identifiers: chr7:g.55242444T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174751T>A , CM000669.2:g.55174751T>A	GRCh38
NC_000007.13:g.55242444T>A , CM000669.1:g.55242444T>A	GRCh37
NC_000007.12:g.55209938T>A	NCBI36
NG_007726.3:g.160720T>A , LRG_304:g.160720T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2055T>A	ENSP00000413354.2:p.Val685=
ENST00000700145.1:c.563T>A
ENST00000275493.7:c.2214T>A MANE Select	ENSP00000275493.2:p.Val738=
ENST00000275493.6:c.2214T>A	ENSP00000275493.2:p.Val738=
ENST00000442591.5:c.*28+1823T>A	ENSP00000410031.1:n.*28+1823T>A
ENST00000454757.6:c.2079T>A	ENSP00000395243.3:p.Val693=
ENST00000455089.5:c.2079T>A	ENSP00000415559.1:p.Val693=
NM_005228.3:c.2214T>A , LRG_304t1:c.2214T>A	NP_005219.2:p.Val738=
NM_001346897.1:c.2079T>A	NP_001333826.1:p.Val693=
NM_001346898.1:c.2214T>A	NP_001333827.1:p.Val738=
NM_001346899.1:c.2079T>A	NP_001333828.1:p.Val693=
NM_001346900.1:c.2055T>A	NP_001333829.1:p.Val685=
NM_001346941.1:c.1413T>A	NP_001333870.1:p.Val471=
NM_005228.4:c.2214T>A	NP_005219.2:p.Val738=
NM_005228.5:c.2214T>A MANE Select	NP_005219.2:p.Val738=
NM_001346897.2:c.2079T>A	NP_001333826.1:p.Val693=
NM_001346898.2:c.2214T>A	NP_001333827.1:p.Val738=
NM_001346900.2:c.2055T>A	NP_001333829.1:p.Val685=
NM_001346941.2:c.1413T>A	NP_001333870.1:p.Val471=
NM_001346899.2:c.2079T>A	NP_001333828.1:p.Val693=