Canonical Allele Identifier: CA457095763

Gene: SLC26A4

Linked Data

• MyVariant Identifiers: chr7:g.107336389G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107695944G>C , CM000669.2:g.107695944G>C	GRCh38
NC_000007.13:g.107336389G>C , CM000669.1:g.107336389G>C	GRCh37
NC_000007.12:g.107123625G>C	NCBI36
NG_008489.1:g.40310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.1449G>C MANE Select	ENSP00000494017.1:p.Val483=
ENST00000644846.1:c.160G>C
ENST00000265715.7:c.1449G>C	ENSP00000265715.3:p.Val483=
ENST00000460748.1:n.552G>C
ENST00000477350.5:n.296G>C
ENST00000480841.5:n.298G>C
ENST00000497446.5:n.464G>C
NM_000441.1:c.1449G>C	NP_000432.1:p.Val483=
XM_005250425.1:c.1449G>C	XP_005250482.1:p.Val483=
XM_005250425.2:c.1449G>C	XP_005250482.1:p.Val483=
XM_017012318.1:c.1371G>C	XP_016867807.1:p.Val457=
NM_000441.2:c.1449G>C MANE Select	NP_000432.1:p.Val483=