Canonical Allele Identifier: CA12433752
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs851982
gnomAD v2: 6-152024985-T-C
gnomAD v3: 6-151703850-T-C
gnomAD v4: 6-151703850-T-C
MyVariant Identifiers: chr6:g.152024985T>C (hg19) chr6:g.151703850T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151703850T>C , CM000668.2:g.151703850T>C GRCh38
NC_000006.11:g.152024985T>C , CM000668.1:g.152024985T>C GRCh37
NC_000006.10:g.152066678T>C NCBI36
NG_008493.1:g.18355T>C
NG_008493.2:g.52160T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000404742.5:c.-71+1845T>C ENSP00000385373.1:n.-71+1845T>C
ENST00000440973.5:c.-71+1845T>C ENSP00000405330.1:n.-71+1845T>C
ENST00000473497.5:n.204+1845T>C
NM_001122742.1:c.-71+1845T>C NP_001116214.1:n.-71+1845T>C
XM_006715374.2:c.-71+1845T>C XP_006715437.1:n.-71+1845T>C
XM_011535543.1:c.-185+1845T>C XP_011533845.1:n.-185+1845T>C
XM_011535547.1:c.-71+1845T>C XP_011533849.1:n.-71+1845T>C
XM_006715374.3:c.-71+1845T>C XP_006715437.1:n.-71+1845T>C
XM_011535543.2:c.-185+1845T>C XP_011533845.1:n.-185+1845T>C
XM_011535547.2:c.-71+1845T>C XP_011533849.1:n.-71+1845T>C
XM_017010376.1:c.-71+1845T>C XP_016865865.1:n.-71+1845T>C
XM_017010377.1:c.-71+1845T>C XP_016865866.1:n.-71+1845T>C
XM_017010378.1:c.-71+1845T>C XP_016865867.1:n.-71+1845T>C
XM_017010379.1:c.-71+1845T>C XP_016865868.1:n.-71+1845T>C
XM_017010380.1:c.-71+47087T>C XP_016865869.1:n.-71+47087T>C
XR_001743223.2:n.300+1845T>C
XR_002956266.1:n.300+1845T>C
NM_001122742.2:c.-71+1845T>C NP_001116214.1:n.-71+1845T>C
NM_001385568.1:c.-71+1845T>C NP_001372497.1:n.-71+1845T>C
NM_001385570.1:c.-71+1845T>C NP_001372499.1:n.-71+1845T>C
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