Canonical Allele Identifier: CA356982
Gene: ECM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.150511475C>T
GRCh37 chr1:g.150483951C>T
gnomAD v2:
1:150483951 C / T
gnomAD v3:
1:150511475 C / T
gnomAD v4:
chr1-150511475-C-T
Joint Max Group AF 0.00002154 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
ClinVar RCV:
RCV000208570
ClinVar Variation:
222946
dbSNP:
746217361
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150511475C>T , CM000663.2:g.150511475C>T GRCh38
NC_000001.10:g.150483951C>T , CM000663.1:g.150483951C>T GRCh37
NC_000001.9:g.148750575C>T NCBI36
NG_012062.1:g.8465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369047.9:c.727C>T MANE Select ENSP00000358043.4:p.Arg243Ter
ENST00000346569.6:c.708+277C>T ENSP00000271630.6:n.708+277C>T
ENST00000369047.8:c.727C>T ENSP00000358043.4:p.Arg243Ter
ENST00000369049.8:c.808C>T ENSP00000358045.4:p.Arg270Ter
ENST00000470432.5:n.2084C>T
NM_001202858.1:c.808C>T NP_001189787.1:p.Arg270Ter
NM_004425.3:c.727C>T NP_004416.2:p.Arg243Ter
NM_022664.2:c.708+277C>T NP_073155.2:n.708+277C>T
NM_004425.4:c.727C>T MANE Select NP_004416.2:p.Arg243Ter
NM_001202858.2:c.808C>T NP_001189787.1:p.Arg270Ter
NM_022664.3:c.708+277C>T NP_073155.2:n.708+277C>T
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