Canonical Allele Identifier: CA12338329

Gene: ESR1

Linked Data

• dbSNP Id: rs3020348
• gnomAD v2: 6-152057914-C-A
• gnomAD v3: 6-151736779-C-A
• gnomAD v4: 6-151736779-C-A
• MyVariant Identifiers: chr6:g.152057914C>A (hg19) ; chr6:g.151736779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151736779C>A , CM000668.2:g.151736779C>A	GRCh38
NC_000006.11:g.152057914C>A , CM000668.1:g.152057914C>A	GRCh37
NC_000006.10:g.152099607C>A	NCBI36
NG_008493.1:g.51284C>A
NG_008493.2:g.85089C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000404742.5:c.-71+34774C>A	ENSP00000385373.1:n.-71+34774C>A
ENST00000440973.5:c.-71+34774C>A	ENSP00000405330.1:n.-71+34774C>A
ENST00000473497.5:n.204+34774C>A
NM_001122742.1:c.-71+34774C>A	NP_001116214.1:n.-71+34774C>A
XM_006715374.2:c.-71+34774C>A	XP_006715437.1:n.-71+34774C>A
XM_011535543.1:c.-184-20701C>A	XP_011533845.1:n.-184-20701C>A
XM_011535547.1:c.-71+34774C>A	XP_011533849.1:n.-71+34774C>A
XM_006715374.3:c.-71+34774C>A	XP_006715437.1:n.-71+34774C>A
XM_011535543.2:c.-184-20701C>A	XP_011533845.1:n.-184-20701C>A
XM_011535547.2:c.-71+34774C>A	XP_011533849.1:n.-71+34774C>A
XM_017010376.1:c.-71+34774C>A	XP_016865865.1:n.-71+34774C>A
XM_017010377.1:c.-71+34774C>A	XP_016865866.1:n.-71+34774C>A
XM_017010378.1:c.-71+34774C>A	XP_016865867.1:n.-71+34774C>A
XM_017010379.1:c.-71+34774C>A	XP_016865868.1:n.-71+34774C>A
XM_017010380.1:c.-70-71064C>A	XP_016865869.1:n.-70-71064C>A
XR_001743223.2:n.300+34774C>A
XR_002956266.1:n.300+34774C>A
NM_001122742.2:c.-71+34774C>A	NP_001116214.1:n.-71+34774C>A
NM_001385568.1:c.-71+34774C>A	NP_001372497.1:n.-71+34774C>A
NM_001385570.1:c.-71+34774C>A	NP_001372499.1:n.-71+34774C>A