Canonical Allele Identifier: CA7626704
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 640191
ClinVar RCV Id: RCV000793162
dbSNP Id: rs772926628
ExAC: 15:67073382 G / C
gnomAD v2: 15-67073382-G-C
gnomAD v3: 15-66781044-G-C
gnomAD v4: 15-66781044-G-C
MyVariant Identifiers: chr15:g.67073382G>C (hg19) chr15:g.66781044G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781044G>C , CM000677.2:g.66781044G>C GRCh38
NC_000015.9:g.67073382G>C , CM000677.1:g.67073382G>C GRCh37
NC_000015.8:g.64860436G>C NCBI36
NG_012244.1:g.83709G>C
NG_012244.2:g.83709G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1000G>C MANE Select ENSP00000288840.5:p.Val334Leu
ENST00000288840.9:c.1000G>C ENSP00000288840.5:p.Val334Leu
ENST00000557916.5:c.1132G>C ENSP00000452955.1:n.1132G>C
ENST00000559931.5:c.304G>C ENSP00000453446.1:n.304G>C
NM_005585.4:c.1000G>C NP_005576.3:p.Val334Leu
NR_027654.1:n.2055G>C
XM_011521561.1:c.217G>C XP_011519863.1:p.Val73Leu
XR_931825.1:n.2399G>C
XM_011521561.2:c.217G>C XP_011519863.1:p.Val73Leu
NM_005585.5:c.1000G>C MANE Select NP_005576.3:p.Val334Leu
NR_027654.2:n.2155G>C
Search 100 bp 5'
Search 100 bp 3'