Canonical Allele Identifier: CA103742193
Community Standard Title: NM_001963.6(EGF):c.2372-88C>T
Gene: EGF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109983334C>T , CM000666.2:g.109983334C>T GRCh38
NC_000004.11:g.110904490C>T , CM000666.1:g.110904490C>T GRCh37
NC_000004.10:g.111123939C>T NCBI36
NG_011441.1:g.75451C>T
NG_011441.2:g.75451C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001963.6:c.2372-88C>T MANE Select NP_001954.2:n.2372-88C>T
ENST00000265171.10:c.2372-88C>T MANE Select ENSP00000265171.5:n.2372-88C>T
NM_001178130.1:c.2372-88C>T NP_001171601.1:n.2372-88C>T
NM_001178130.2:c.2372-88C>T NP_001171601.1:n.2372-88C>T
NM_001178130.3:c.2372-88C>T NP_001171601.1:n.2372-88C>T
NM_001178131.1:c.2246-88C>T NP_001171602.1:n.2246-88C>T
NM_001178131.2:c.2246-88C>T NP_001171602.1:n.2246-88C>T
NM_001178131.3:c.2246-88C>T NP_001171602.1:n.2246-88C>T
NM_001357021.1:c.2246-88C>T NP_001343950.1:n.2246-88C>T
NM_001357021.2:c.2246-88C>T NP_001343950.1:n.2246-88C>T
NM_001963.4:c.2372-88C>T NP_001954.2:n.2372-88C>T
NM_001963.5:c.2372-88C>T NP_001954.2:n.2372-88C>T
ENST00000265171.9:c.2372-88C>T ENSP00000265171.5:n.2372-88C>T
ENST00000503392.1:c.2372-88C>T ENSP00000421384.1:n.2372-88C>T
ENST00000509793.5:c.2246-88C>T ENSP00000424316.1:n.2246-88C>T
ENST00000509996.1:n.300-88C>T
ENST00000511228.5:n.336-88C>T
ENST00000652245.1:c.2246-88C>T ENSP00000498337.1:n.2246-88C>T
XM_005262796.2:c.2372-88C>T XP_005262853.1:n.2372-88C>T
XM_005262797.2:c.2246-88C>T XP_005262854.1:n.2246-88C>T
XM_005262798.2:c.2372-88C>T XP_005262855.1:n.2372-88C>T
XM_005262800.2:c.2372-88C>T XP_005262857.1:n.2372-88C>T
XM_005262801.2:c.2372-88C>T XP_005262858.1:n.2372-88C>T
XM_006714124.2:c.2372-88C>T XP_006714187.1:n.2372-88C>T
XM_011531707.1:c.2261-88C>T XP_011530009.1:n.2261-88C>T
XM_011531708.1:c.2372-88C>T XP_011530010.1:n.2372-88C>T
XM_017007845.1:c.2396-88C>T XP_016863334.1:n.2396-88C>T
XM_017007846.1:c.2396-88C>T XP_016863335.1:n.2396-88C>T
XM_017007847.1:c.2396-88C>T XP_016863336.1:n.2396-88C>T
XM_017007848.1:c.2270-88C>T XP_016863337.1:n.2270-88C>T
XM_017007849.1:c.2396-88C>T XP_016863338.1:n.2396-88C>T
XM_017007850.1:c.2396-88C>T XP_016863339.1:n.2396-88C>T
XM_017007851.1:c.2396-88C>T XP_016863340.1:n.2396-88C>T
XM_017007853.1:c.2396-88C>T XP_016863342.1:n.2396-88C>T
XR_001741156.1:n.2849-88C>T
XR_001741157.1:n.2849-88C>T
XR_427532.2:n.2825-88C>T
XR_938699.1:n.2825-88C>T