Canonical Allele Identifier: CA150182773

Gene: ESR1

Linked Data

• dbSNP Id: rs558462417
• gnomAD v2: 6-152432903-G-T
• gnomAD v3: 6-152111768-G-T
• gnomAD v4: 6-152111768-G-T
• MyVariant Identifiers: chr6:g.152432903G>T (hg19) ; chr6:g.152111768G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152111768G>T , CM000668.2:g.152111768G>T	GRCh38
NC_000006.11:g.152432903G>T , CM000668.1:g.152432903G>T	GRCh37
NC_000006.10:g.152474596G>T	NCBI36
NG_008493.2:g.460078G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000641399.1:n.1071-6495G>T
ENST00000427531.6:c.851-13498G>T	ENSP00000394721.2:n.851-13498G>T
NM_001328100.1:c.851-13498G>T	NP_001315029.1:n.851-13498G>T
NM_001328100.2:c.851-13498G>T	NP_001315029.1:n.851-13498G>T