Canonical Allele Identifier: CA820849907

Gene: ESR1

Linked Data

• dbSNP Id: rs1166453270
• gnomAD v3: 6-151726807-G-C
• gnomAD v4: 6-151726807-G-C
• MyVariant Identifiers: chr6:g.152047942G>C (hg19) ; chr6:g.151726807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151726807G>C , CM000668.2:g.151726807G>C	GRCh38
NC_000006.11:g.152047942G>C , CM000668.1:g.152047942G>C	GRCh37
NC_000006.10:g.152089635G>C	NCBI36
NG_008493.1:g.41312G>C
NG_008493.2:g.75117G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000404742.5:c.-71+24802G>C	ENSP00000385373.1:n.-71+24802G>C
ENST00000440973.5:c.-71+24802G>C	ENSP00000405330.1:n.-71+24802G>C
ENST00000473497.5:n.204+24802G>C
NM_001122742.1:c.-71+24802G>C	NP_001116214.1:n.-71+24802G>C
XM_006715374.2:c.-71+24802G>C	XP_006715437.1:n.-71+24802G>C
XM_011535543.1:c.-185+24802G>C	XP_011533845.1:n.-185+24802G>C
XM_011535547.1:c.-71+24802G>C	XP_011533849.1:n.-71+24802G>C
XM_006715374.3:c.-71+24802G>C	XP_006715437.1:n.-71+24802G>C
XM_011535543.2:c.-185+24802G>C	XP_011533845.1:n.-185+24802G>C
XM_011535547.2:c.-71+24802G>C	XP_011533849.1:n.-71+24802G>C
XM_017010376.1:c.-71+24802G>C	XP_016865865.1:n.-71+24802G>C
XM_017010377.1:c.-71+24802G>C	XP_016865866.1:n.-71+24802G>C
XM_017010378.1:c.-71+24802G>C	XP_016865867.1:n.-71+24802G>C
XM_017010379.1:c.-71+24802G>C	XP_016865868.1:n.-71+24802G>C
XM_017010380.1:c.-71+70044G>C	XP_016865869.1:n.-71+70044G>C
XR_001743223.2:n.300+24802G>C
XR_002956266.1:n.300+24802G>C
NM_001122742.2:c.-71+24802G>C	NP_001116214.1:n.-71+24802G>C
NM_001385568.1:c.-71+24802G>C	NP_001372497.1:n.-71+24802G>C
NM_001385570.1:c.-71+24802G>C	NP_001372499.1:n.-71+24802G>C