Canonical Allele Identifier: CA455165185

Gene: EGFR EGFR-AS1

Linked Data

• gnomAD v4: 7-55181391-C-T
• MyVariant Identifiers: chr7:g.55249084C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181391C>T , CM000669.2:g.55181391C>T	GRCh38
NC_000007.13:g.55249084C>T , CM000669.1:g.55249084C>T	GRCh37
NC_000007.12:g.55216578C>T	NCBI36
NG_007726.3:g.167360C>T , LRG_304:g.167360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2223C>T (EGFR)	ENSP00000413354.2:p.Pro741=
ENST00000700145.1:c.731C>T (EGFR)
ENST00000275493.7:c.2382C>T (EGFR) MANE Select	ENSP00000275493.2:p.Pro794=
ENST00000275493.6:c.2382C>T (EGFR)	ENSP00000275493.2:p.Pro794=
ENST00000442591.5:c.*28+8463C>T (EGFR)	ENSP00000410031.1:n.*28+8463C>T
ENST00000454757.6:c.2247C>T (EGFR)	ENSP00000395243.3:p.Pro749=
ENST00000455089.5:c.2247C>T (EGFR)	ENSP00000415559.1:p.Pro749=
NM_005228.3:c.2382C>T , LRG_304t1:c.2382C>T (EGFR)	NP_005219.2:p.Pro794=
NR_047551.1:n.1180G>A (EGFR-AS1)
NM_001346897.1:c.2247C>T (EGFR)	NP_001333826.1:p.Pro749=
NM_001346898.1:c.2382C>T (EGFR)	NP_001333827.1:p.Pro794=
NM_001346899.1:c.2247C>T (EGFR)	NP_001333828.1:p.Pro749=
NM_001346900.1:c.2223C>T (EGFR)	NP_001333829.1:p.Pro741=
NM_001346941.1:c.1581C>T (EGFR)	NP_001333870.1:p.Pro527=
NM_005228.4:c.2382C>T (EGFR)	NP_005219.2:p.Pro794=
NM_005228.5:c.2382C>T (EGFR) MANE Select	NP_005219.2:p.Pro794=
NM_001346897.2:c.2247C>T (EGFR)	NP_001333826.1:p.Pro749=
NM_001346898.2:c.2382C>T (EGFR)	NP_001333827.1:p.Pro794=
NM_001346900.2:c.2223C>T (EGFR)	NP_001333829.1:p.Pro741=
NM_001346941.2:c.1581C>T (EGFR)	NP_001333870.1:p.Pro527=
NM_001346899.2:c.2247C>T (EGFR)	NP_001333828.1:p.Pro749=