Canonical Allele Identifier: CA2607291239

Gene: ENAH

Linked Data

• dbSNP Id: rs2150984673
• gnomAD v3: 1-225488770-T-G
• gnomAD v4: 1-225488770-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225488770T>G , CM000663.2:g.225488770T>G	GRCh38
NC_000001.10:g.225676472T>G , CM000663.1:g.225676472T>G	GRCh37
NC_000001.9:g.223743095T>G	NCBI36
NG_051578.1:g.176276A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696609.1:c.*9005A>C	ENSP00000512753.1:n.*9005A>C
ENST00000366843.7:c.*9005A>C MANE Select	ENSP00000355808.2:n.*9005A>C
ENST00000366844.7:c.*9005A>C	ENSP00000355809.2:n.*9005A>C
NM_001008493.1:c.*9005A>C	NP_001008493.1:n.*9005A>C
NM_018212.4:c.*9005A>C	NP_060682.2:n.*9005A>C
NM_001008493.2:c.*9005A>C	NP_001008493.1:n.*9005A>C
NM_018212.5:c.*9005A>C	NP_060682.2:n.*9005A>C
XM_017001751.1:c.*9005A>C	XP_016857240.1:n.*9005A>C
XM_024448309.1:c.*9005A>C	XP_024304077.1:n.*9005A>C
XM_024448310.1:c.*9005A>C	XP_024304078.1:n.*9005A>C
XM_024448311.1:c.*9005A>C	XP_024304079.1:n.*9005A>C
XM_024448313.1:c.*9005A>C	XP_024304081.1:n.*9005A>C
XM_024448314.1:c.*9005A>C	XP_024304082.1:n.*9005A>C
XM_024448315.1:c.*9005A>C	XP_024304083.1:n.*9005A>C
XM_024448316.1:c.*9005A>C	XP_024304084.1:n.*9005A>C
XM_024448317.1:c.*9005A>C	XP_024304085.1:n.*9005A>C
NM_001008493.3:c.*9005A>C	NP_001008493.1:n.*9005A>C
NM_001377481.1:c.*9005A>C	NP_001364410.1:n.*9005A>C
NM_001377482.1:c.*9005A>C	NP_001364411.1:n.*9005A>C
NM_001377483.1:c.*9005A>C	NP_001364412.1:n.*9005A>C
NM_018212.6:c.*9005A>C MANE Select	NP_060682.2:n.*9005A>C