Canonical Allele Identifier: CA4266223

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1659132
• ClinVar RCV Id: RCV002174549
• dbSNP Id: rs201715758
• ExAC: 7:55268864 C / T
• gnomAD v2: 7-55268864-C-T
• gnomAD v3: 7-55201171-C-T
• gnomAD v4: 7-55201171-C-T
• MyVariant Identifiers: chr7:g.55268864C>T (hg19) ; chr7:g.55201171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201171C>T , CM000669.2:g.55201171C>T	GRCh38
NC_000007.13:g.55268864C>T , CM000669.1:g.55268864C>T	GRCh37
NC_000007.12:g.55236358C>T	NCBI36
NG_007726.3:g.187140C>T , LRG_304:g.187140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2788-17C>T	ENSP00000413354.2:n.2788-17C>T
ENST00000700145.1:c.900-4176C>T
ENST00000700146.1:n.691-17C>T
ENST00000700147.1:n.599C>T
ENST00000275493.7:c.2947-17C>T MANE Select	ENSP00000275493.2:n.2947-17C>T
ENST00000275493.6:c.2947-17C>T	ENSP00000275493.2:n.2947-17C>T
ENST00000442591.5:c.*28+28243C>T	ENSP00000410031.1:n.*28+28243C>T
ENST00000454757.6:c.2812-17C>T	ENSP00000395243.3:n.2812-17C>T
ENST00000455089.5:c.2812-17C>T	ENSP00000415559.1:n.2812-17C>T
NM_005228.3:c.2947-17C>T , LRG_304t1:c.2947-17C>T	NP_005219.2:n.2947-17C>T
NM_001346897.1:c.2812-17C>T	NP_001333826.1:n.2812-17C>T
NM_001346898.1:c.2947-17C>T	NP_001333827.1:n.2947-17C>T
NM_001346899.1:c.2812-17C>T	NP_001333828.1:n.2812-17C>T
NM_001346900.1:c.2788-17C>T	NP_001333829.1:n.2788-17C>T
NM_001346941.1:c.2146-17C>T	NP_001333870.1:n.2146-17C>T
NM_005228.4:c.2947-17C>T	NP_005219.2:n.2947-17C>T
NM_005228.5:c.2947-17C>T MANE Select	NP_005219.2:n.2947-17C>T
NM_001346897.2:c.2812-17C>T	NP_001333826.1:n.2812-17C>T
NM_001346898.2:c.2947-17C>T	NP_001333827.1:n.2947-17C>T
NM_001346900.2:c.2788-17C>T	NP_001333829.1:n.2788-17C>T
NM_001346941.2:c.2146-17C>T	NP_001333870.1:n.2146-17C>T
NM_001346899.2:c.2812-17C>T	NP_001333828.1:n.2812-17C>T