Canonical Allele Identifier: CA4265989

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1080352
• ClinVar RCV Id: RCV001395954
• dbSNP Id: rs55959834
• ExAC: 7:55241727 G / C
• gnomAD v2: 7-55241727-G-C
• gnomAD v4: 7-55174034-G-C
• MyVariant Identifiers: chr7:g.55241727G>C (hg19) ; chr7:g.55174034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174034G>C , CM000669.2:g.55174034G>C	GRCh38
NC_000007.13:g.55241727G>C , CM000669.1:g.55241727G>C	GRCh37
NC_000007.12:g.55209221G>C	NCBI36
NG_007726.3:g.160003G>C , LRG_304:g.160003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2016G>C	ENSP00000413354.2:p.Thr672=
ENST00000700145.1:c.524G>C
ENST00000275493.7:c.2175G>C MANE Select	ENSP00000275493.2:p.Thr725=
ENST00000275493.6:c.2175G>C	ENSP00000275493.2:p.Thr725=
ENST00000442591.5:c.*28+1106G>C	ENSP00000410031.1:n.*28+1106G>C
ENST00000454757.6:c.2040G>C	ENSP00000395243.3:p.Thr680=
ENST00000455089.5:c.2040G>C	ENSP00000415559.1:p.Thr680=
NM_005228.3:c.2175G>C , LRG_304t1:c.2175G>C	NP_005219.2:p.Thr725=
NM_001346897.1:c.2040G>C	NP_001333826.1:p.Thr680=
NM_001346898.1:c.2175G>C	NP_001333827.1:p.Thr725=
NM_001346899.1:c.2040G>C	NP_001333828.1:p.Thr680=
NM_001346900.1:c.2016G>C	NP_001333829.1:p.Thr672=
NM_001346941.1:c.1374G>C	NP_001333870.1:p.Thr458=
NM_005228.4:c.2175G>C	NP_005219.2:p.Thr725=
NM_005228.5:c.2175G>C MANE Select	NP_005219.2:p.Thr725=
NM_001346897.2:c.2040G>C	NP_001333826.1:p.Thr680=
NM_001346898.2:c.2175G>C	NP_001333827.1:p.Thr725=
NM_001346900.2:c.2016G>C	NP_001333829.1:p.Thr672=
NM_001346941.2:c.1374G>C	NP_001333870.1:p.Thr458=
NM_001346899.2:c.2040G>C	NP_001333828.1:p.Thr680=