Canonical Allele Identifier: CA158932232

Gene: EGFR

Linked Data

• dbSNP Id: rs571741865
• gnomAD v2: 7-55242126-C-T
• gnomAD v3: 7-55174433-C-T
• gnomAD v4: 7-55174433-C-T
• MyVariant Identifiers: chr7:g.55242126C>T (hg19) ; chr7:g.55174433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174433C>T , CM000669.2:g.55174433C>T	GRCh38
NC_000007.13:g.55242126C>T , CM000669.1:g.55242126C>T	GRCh37
NC_000007.12:g.55209620C>T	NCBI36
NG_007726.3:g.160402C>T , LRG_304:g.160402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2026-289C>T	ENSP00000413354.2:n.2026-289C>T
ENST00000700145.1:c.534-289C>T
ENST00000275493.7:c.2185-289C>T MANE Select	ENSP00000275493.2:n.2185-289C>T
ENST00000275493.6:c.2185-289C>T	ENSP00000275493.2:n.2185-289C>T
ENST00000442591.5:c.*28+1505C>T	ENSP00000410031.1:n.*28+1505C>T
ENST00000454757.6:c.2050-289C>T	ENSP00000395243.3:n.2050-289C>T
ENST00000455089.5:c.2050-289C>T	ENSP00000415559.1:n.2050-289C>T
NM_005228.3:c.2185-289C>T , LRG_304t1:c.2185-289C>T	NP_005219.2:n.2185-289C>T
NM_001346897.1:c.2050-289C>T	NP_001333826.1:n.2050-289C>T
NM_001346898.1:c.2185-289C>T	NP_001333827.1:n.2185-289C>T
NM_001346899.1:c.2050-289C>T	NP_001333828.1:n.2050-289C>T
NM_001346900.1:c.2026-289C>T	NP_001333829.1:n.2026-289C>T
NM_001346941.1:c.1384-289C>T	NP_001333870.1:n.1384-289C>T
NM_005228.4:c.2185-289C>T	NP_005219.2:n.2185-289C>T
NM_005228.5:c.2185-289C>T MANE Select	NP_005219.2:n.2185-289C>T
NM_001346897.2:c.2050-289C>T	NP_001333826.1:n.2050-289C>T
NM_001346898.2:c.2185-289C>T	NP_001333827.1:n.2185-289C>T
NM_001346900.2:c.2026-289C>T	NP_001333829.1:n.2026-289C>T
NM_001346941.2:c.1384-289C>T	NP_001333870.1:n.1384-289C>T
NM_001346899.2:c.2050-289C>T	NP_001333828.1:n.2050-289C>T