Canonical Allele Identifier: CA2682855186

Gene: EGFR

Linked Data

• gnomAD v4: 7-55192020-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55192020G>T , CM000669.2:g.55192020G>T	GRCh38
NC_000007.13:g.55259713G>T , CM000669.1:g.55259713G>T	GRCh37
NC_000007.12:g.55227207G>T	NCBI36
NG_007726.3:g.177989G>T , LRG_304:g.177989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2466+146G>T	ENSP00000413354.2:n.2466+146G>T
ENST00000700145.1:c.899+221G>T
ENST00000275493.7:c.2625+146G>T MANE Select	ENSP00000275493.2:n.2625+146G>T
ENST00000275493.6:c.2625+146G>T	ENSP00000275493.2:n.2625+146G>T
ENST00000442591.5:c.*28+19092G>T	ENSP00000410031.1:n.*28+19092G>T
ENST00000454757.6:c.2490+146G>T	ENSP00000395243.3:n.2490+146G>T
ENST00000455089.5:c.2490+146G>T	ENSP00000415559.1:n.2490+146G>T
NM_005228.3:c.2625+146G>T , LRG_304t1:c.2625+146G>T	NP_005219.2:n.2625+146G>T
NM_001346897.1:c.2490+146G>T	NP_001333826.1:n.2490+146G>T
NM_001346898.1:c.2625+146G>T	NP_001333827.1:n.2625+146G>T
NM_001346899.1:c.2490+146G>T	NP_001333828.1:n.2490+146G>T
NM_001346900.1:c.2466+146G>T	NP_001333829.1:n.2466+146G>T
NM_001346941.1:c.1824+146G>T	NP_001333870.1:n.1824+146G>T
NM_005228.4:c.2625+146G>T	NP_005219.2:n.2625+146G>T
NM_005228.5:c.2625+146G>T MANE Select	NP_005219.2:n.2625+146G>T
NM_001346897.2:c.2490+146G>T	NP_001333826.1:n.2490+146G>T
NM_001346898.2:c.2625+146G>T	NP_001333827.1:n.2625+146G>T
NM_001346900.2:c.2466+146G>T	NP_001333829.1:n.2466+146G>T
NM_001346941.2:c.1824+146G>T	NP_001333870.1:n.1824+146G>T
NM_001346899.2:c.2490+146G>T	NP_001333828.1:n.2490+146G>T