Canonical Allele Identifier: CA7003799

Gene: TBC1D4

Linked Data

• ClinVar Variation Id: 3034087
• ClinVar RCV Id: RCV003904026
• dbSNP Id: rs184766279
• ExAC: 13:75898424 C / T
• gnomAD v2: 13-75898424-C-T
• gnomAD v3: 13-75324288-C-T
• gnomAD v4: 13-75324288-C-T
• MyVariant Identifiers: chr13:g.75898424C>T (hg19) ; chr13:g.75324288C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.75324288C>T , CM000675.2:g.75324288C>T	GRCh38
NC_000013.10:g.75898424C>T , CM000675.1:g.75898424C>T	GRCh37
NC_000013.9:g.74796425C>T	NCBI36
NG_042850.1:g.162881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377636.8:c.2147G>A MANE Select	ENSP00000366863.3:p.Ser716Asn
ENST00000648194.1:c.1490+1909G>A	ENSP00000496983.1:n.1490+1909G>A
ENST00000377625.6:c.2033+1909G>A	ENSP00000366852.2:n.2033+1909G>A
ENST00000377636.7:c.2147G>A	ENSP00000366863.3:p.Ser716Asn
ENST00000413735.1:c.569+1909G>A	ENSP00000396932.1:n.569+1909G>A
ENST00000431480.6:c.2147G>A	ENSP00000395986.2:p.Ser716Asn
ENST00000488955.1:n.168G>A
NM_001286658.1:c.2147G>A	NP_001273587.1:p.Ser716Asn
NM_001286658.2:c.2147G>A	NP_001273587.1:p.Ser716Asn
NM_001286659.1:c.2033+1909G>A	NP_001273588.1:n.2033+1909G>A
NM_001286659.2:c.2033+1909G>A	NP_001273588.1:n.2033+1909G>A
NM_014832.3:c.2147G>A	NP_055647.2:p.Ser716Asn
NM_014832.4:c.2147G>A	NP_055647.2:p.Ser716Asn
XM_005266603.1:c.2072G>A	XP_005266660.1:p.Ser691Asn
XM_005266605.1:c.1604G>A	XP_005266662.1:p.Ser535Asn
XM_006719903.2:c.1673G>A	XP_006719966.1:p.Ser558Asn
XM_011535331.1:c.2036G>A	XP_011533633.1:p.Ser679Asn
XM_005266603.2:c.2072G>A	XP_005266660.1:p.Ser691Asn
XM_005266605.3:c.1604G>A	XP_005266662.1:p.Ser535Asn
XM_006719903.3:c.1673G>A	XP_006719966.1:p.Ser558Asn
XM_011535331.2:c.2036G>A	XP_011533633.1:p.Ser679Asn
XM_017020882.2:c.1490+1909G>A	XP_016876371.1:n.1490+1909G>A
XM_017020883.2:c.1379+1909G>A	XP_016876372.1:n.1379+1909G>A
NM_014832.5:c.2147G>A MANE Select	NP_055647.2:p.Ser716Asn