Canonical Allele Identifier: CA3043613

Gene: EGF

Linked Data

• dbSNP Id: rs768396167
• ExAC: 4:110883034 C / T
• gnomAD v2: 4-110883034-C-T
• gnomAD v4: 4-109961878-C-T
• MyVariant Identifiers: chr4:g.110883034C>T (hg19) ; chr4:g.109961878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109961878C>T , CM000666.2:g.109961878C>T	GRCh38
NC_000004.11:g.110883034C>T , CM000666.1:g.110883034C>T	GRCh37
NC_000004.10:g.111102483C>T	NCBI36
NG_011441.1:g.53995C>T
NG_011441.2:g.53995C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265171.10:c.1205C>T MANE Select	ENSP00000265171.5:p.Pro402Leu
ENST00000652245.1:c.1079C>T	ENSP00000498337.1:p.Pro360Leu
ENST00000265171.9:c.1205C>T	ENSP00000265171.5:p.Pro402Leu
ENST00000503392.1:c.1205C>T	ENSP00000421384.1:p.Pro402Leu
ENST00000504633.1:n.443C>T
ENST00000509793.5:c.1079C>T	ENSP00000424316.1:p.Pro360Leu
NM_001178130.1:c.1205C>T	NP_001171601.1:p.Pro402Leu
NM_001178131.1:c.1079C>T	NP_001171602.1:p.Pro360Leu
NM_001963.4:c.1205C>T	NP_001954.2:p.Pro402Leu
XM_005262796.2:c.1205C>T	XP_005262853.1:p.Pro402Leu
XM_005262797.2:c.1079C>T	XP_005262854.1:p.Pro360Leu
XM_005262798.2:c.1205C>T	XP_005262855.1:p.Pro402Leu
XM_005262800.2:c.1205C>T	XP_005262857.1:p.Pro402Leu
XM_005262801.2:c.1205C>T	XP_005262858.1:p.Pro402Leu
XM_005262802.2:c.1205C>T	XP_005262859.1:p.Pro402Leu
XM_006714124.2:c.1205C>T	XP_006714187.1:p.Pro402Leu
XM_011531707.1:c.1094C>T	XP_011530009.1:p.Pro365Leu
XM_011531708.1:c.1205C>T	XP_011530010.1:p.Pro402Leu
XM_011531709.1:c.1205C>T	XP_011530011.1:p.Pro402Leu
XR_427532.2:n.1658C>T
XR_938699.1:n.1658C>T
NM_001178130.2:c.1205C>T	NP_001171601.1:p.Pro402Leu
NM_001178131.2:c.1079C>T	NP_001171602.1:p.Pro360Leu
NM_001357021.1:c.1079C>T	NP_001343950.1:p.Pro360Leu
NM_001963.5:c.1205C>T	NP_001954.2:p.Pro402Leu
XM_017007845.1:c.1229C>T	XP_016863334.1:p.Pro410Leu
XM_017007846.1:c.1229C>T	XP_016863335.1:p.Pro410Leu
XM_017007847.1:c.1229C>T	XP_016863336.1:p.Pro410Leu
XM_017007848.1:c.1103C>T	XP_016863337.1:p.Pro368Leu
XM_017007849.1:c.1229C>T	XP_016863338.1:p.Pro410Leu
XM_017007850.1:c.1229C>T	XP_016863339.1:p.Pro410Leu
XM_017007851.1:c.1229C>T	XP_016863340.1:p.Pro410Leu
XM_017007853.1:c.1229C>T	XP_016863342.1:p.Pro410Leu
XM_017007854.1:c.1229C>T	XP_016863343.1:p.Pro410Leu
XM_017007855.1:c.1229C>T	XP_016863344.1:p.Pro410Leu
XR_001741156.1:n.1682C>T
XR_001741157.1:n.1682C>T
NM_001178130.3:c.1205C>T	NP_001171601.1:p.Pro402Leu
NM_001178131.3:c.1079C>T	NP_001171602.1:p.Pro360Leu
NM_001357021.2:c.1079C>T	NP_001343950.1:p.Pro360Leu
NM_001963.6:c.1205C>T MANE Select	NP_001954.2:p.Pro402Leu