Canonical Allele Identifier: CA118815
Gene: ECM1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.150511784C>T
GRCh37 chr1:g.150484260C>T
gnomAD v2:
1:150484260 C / T
gnomAD v4:
chr1-150511784-C-T
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar Allele:
22511
ClinVar RCV:
RCV000007898
ClinVar Variation:
7472
dbSNP:
121909114
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150511784C>T , CM000663.2:g.150511784C>T GRCh38
NC_000001.10:g.150484260C>T , CM000663.1:g.150484260C>T GRCh37
NC_000001.9:g.148750884C>T NCBI36
NG_012062.1:g.8774C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369047.9:c.1036C>T MANE Select ENSP00000358043.4:p.Gln346Ter
ENST00000346569.6:c.709-568C>T ENSP00000271630.6:n.709-568C>T
ENST00000369047.8:c.1036C>T ENSP00000358043.4:p.Gln346Ter
ENST00000369049.8:c.1117C>T ENSP00000358045.4:p.Gln373Ter
ENST00000470432.5:n.2393C>T
NM_001202858.1:c.1117C>T NP_001189787.1:p.Gln373Ter
NM_004425.3:c.1036C>T NP_004416.2:p.Gln346Ter
NM_022664.2:c.709-568C>T NP_073155.2:n.709-568C>T
NM_004425.4:c.1036C>T MANE Select NP_004416.2:p.Gln346Ter
NM_001202858.2:c.1117C>T NP_001189787.1:p.Gln373Ter
NM_022664.3:c.709-568C>T NP_073155.2:n.709-568C>T
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