Canonical Allele Identifier: CA559043866

Gene: EGFLAM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38452792C>T , CM000667.2:g.38452792C>T	GRCh38
NC_000005.9:g.38452894C>T , CM000667.1:g.38452894C>T	GRCh37
NC_000005.8:g.38488651C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322350.10:c.2687+1334C>T MANE Select	ENSP00000313084.5:n.2687+1334C>T
ENST00000322350.9:c.2687+1334C>T	ENSP00000313084.5:n.2687+1334C>T
ENST00000336740.10:c.1985+1334C>T	ENSP00000337607.6:n.1985+1334C>T
ENST00000354891.7:c.2711+1334C>T	ENSP00000346964.3:n.2711+1334C>T
ENST00000397202.6:c.785+1334C>T	ENSP00000380385.2:n.785+1334C>T
ENST00000397210.7:c.116+1334C>T	ENSP00000380393.3:n.116+1334C>T
ENST00000506135.5:c.116+1334C>T	ENSP00000425579.1:n.116+1334C>T
ENST00000508131.5:c.116+1334C>T	ENSP00000427228.1:n.116+1334C>T
ENST00000514476.1:c.116+1334C>T	ENSP00000423228.1:n.116+1334C>T
NM_001205301.1:c.2711+1334C>T	NP_001192230.1:n.2711+1334C>T
NM_152403.3:c.2687+1334C>T	NP_689616.2:n.2687+1334C>T
NM_182798.2:c.1985+1334C>T	NP_877950.1:n.1985+1334C>T
NM_182801.2:c.116+1334C>T	NP_877953.1:n.116+1334C>T
NM_152403.4:c.2687+1334C>T MANE Select	NP_689616.2:n.2687+1334C>T
NM_001205301.2:c.2711+1334C>T	NP_001192230.1:n.2711+1334C>T
NM_182798.3:c.1985+1334C>T	NP_877950.1:n.1985+1334C>T
NM_182801.3:c.116+1334C>T	NP_877953.1:n.116+1334C>T